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- Classification Summary
- Variant Details
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- Germline
- Conditions
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NM_007194.4(CHEK2):c.213_214insA (p.Tyr72fs)
Germline
Classification Help The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1) Help Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007194.4(CHEK2):c.213_214insA (p.Tyr72fs)
Variation ID: 3226032 Accession: VCV003226032.1
- Type and length
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Insertion, 1 bp
- Location
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Cytogenetic: 22q12.1 22: 28734508-28734509 (GRCh38) [ NCBI UCSC ] 22: 29130496-29130497 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 1, 2024 May 1, 2024 Feb 22, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007194.4:c.213_214insA MANESelect Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009125.1:p.Tyr72fs frameshift NM_001005735.2:c.213_214insA NP_001005735.1:p.Tyr72fs frameshift NM_001257387.2:c.-565_-564insA 5 prime UTR NM_001349956.2:c.213_214insA NP_001336885.1:p.Tyr72fs frameshift NM_145862.2:c.213_214insA NP_665861.1:p.Tyr72fs frameshift NC_000022.11:g.28734508_28734509insT NC_000022.10:g.29130496_29130497insT NG_008150.2:g.12358_12359insA LRG_302:g.12358_12359insA LRG_302t1:c.213_214insA LRG_302p1:p.Tyr72fs - Protein change
- Y72fs
- Other names
- -
- Canonical SPDI
- NC_000022.11:28734508::T
- Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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- Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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- Allele frequency Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases. | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. | TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. | Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. | All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. | |||
| CHEK2 | Sufficient evidence for dosage pathogenicity | No evidence available | GRCh38 GRCh37 | 3983 | 4037 | |
Conditions - Germline
| Condition Help The condition for this variant-condition (RCV) record in ClinVar. | Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) | Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. | Last evaluated Help The most recent date that a submitter evaluated this variant for the condition. | Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Hereditary cancer-predisposing syndrome | Pathogenic (1) | Feb 22, 2024 | RCV004517302.1 |
Submissions - Germline
| Classification Help The submitted germline classification for each SCV record. (Last evaluated) | Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) | Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. | Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. | More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. | |
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| Pathogenic (Feb 22, 2024) | (Ambry Variant Classification Scheme 2023) Method: clinical testing | Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline | Ambry Genetics Accession: SCV005025518.1 | Comment: The c.213_214insA pathogenic mutation, located in coding exon 1 of the CHEK2 gene, results from an insertion of one nucleotide at positions 213 to 214, … (more) The c.213_214insA pathogenic mutation, located in coding exon 1 of the CHEK2 gene, results from an insertion of one nucleotide at positions 213 to 214, causing a translational frameshift with a predicted alternate stop codon (p.Y72Ifs*5). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less) |
Comment:
The c.213_214insA pathogenic mutation, located in coding exon 1 of the CHEK2 gene, results from an insertion of one nucleotide at positions 213 to 214, causing a translational frameshift with a predicted alternate stop codon (p.Y72Ifs*5). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.
Comment:
The c.213_214insA pathogenic mutation, located in coding exon 1 of the CHEK2 gene, results from an insertion of one nucleotide at positions 213 to 214, causing a translational frameshift with a predicted alternate stop codon (p.Y72Ifs*5). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
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There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.
Text-mined citations for this variant ...
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Record last updated May 08, 2024
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