ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter)

dbSNP: rs397509004
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Total submissions: 3
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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) RCV000661276 SCV000783541 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV001386302 SCV001586486 pathogenic Hereditary breast ovarian cancer syndrome 2018-09-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with ovary cancer (PMID: 28947987), and has also been observed in individuals referred for genetic testing (PMID: 21918853). This variant is also known as c.2847C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 54662). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln910*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577003 SCV000679537 not provided Familial cancer of breast no assertion provided literature only

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