ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3999del (p.Gly1334fs)

dbSNP: rs397509125
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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) RCV000661190 SCV000783445 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 RCV001060311 SCV001224991 pathogenic Hereditary breast ovarian cancer syndrome 2019-12-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1334Valfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual with breast cancer (PMID: 17333343). ClinVar contains an entry for this variant (Variation ID: 55070). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577525 SCV000679265 not provided Familial cancer of breast no assertion provided literature only

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