ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4987_4990del (p.Val1663fs)

dbSNP: rs397507753
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241465 SCV000300814 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Color Diagnostics, LLC DBA Color Health RCV001184084 SCV001349983 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant deletes 4 nucleotides in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001384056 SCV001583428 pathogenic Hereditary breast ovarian cancer syndrome 2022-02-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 51752). This variant is also known as 5215delGTCA. This premature translational stop signal has been observed in individual(s) with personal and/or family history of breast cancer (PMID: 11710890, 23635950). This sequence change creates a premature translational stop signal (p.Val1663Leufs*6) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Baylor Genetics RCV003473352 SCV004212923 pathogenic Familial cancer of breast 2021-08-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354673 SCV001549346 uncertain significance not provided no assertion criteria provided clinical testing

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