ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2630del (p.Asn877fs)

dbSNP: rs886038002
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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) RCV000241293 SCV000299799 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV000637753 SCV000759229 pathogenic Hereditary breast ovarian cancer syndrome 2020-06-06 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 reported in an individual with breast cancer in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 254416). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn877Metfs*16) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Counsyl RCV000241293 SCV000785233 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450758 SCV002739969 pathogenic Hereditary cancer-predisposing syndrome 2021-03-24 criteria provided, single submitter clinical testing The c.2630delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2630, causing a translational frameshift with a predicted alternate stop codon (p.N877Mfs*16). This alteration was identified in a Korean individual diagnosed with triple negative breast cancer (Ryu JM et al. Breast Cancer Res Treat, 2019 Jan;173:385-395). In addition to the clinical data presented in the literature, 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.
GeneDx RCV002466479 SCV002762467 pathogenic not provided 2022-06-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Observed in at least one individual with breast cancer in the published literature (Ryu 2019); Also known as 2749del; This variant is associated with the following publications: (PMID: 30350268, 20104584, 21520333)

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