ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2206del (p.Glu736fs)

dbSNP: rs80357860
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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) RCV000083180 SCV000299719 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 RCV001857390 SCV002246469 pathogenic Hereditary breast ovarian cancer syndrome 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu736Lysfs*17) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with personal and/or family history of BRCA1-related conditions (PMID: 9254884). This variant is also known as 2325delG. ClinVar contains an entry for this variant (Variation ID: 54498). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004554656 SCV004118551 pathogenic BRCA1-related disorder 2022-08-26 criteria provided, single submitter clinical testing The BRCA1 c.2206delG variant is predicted to result in a frameshift and premature protein termination (p.Glu736Lysfs*17). This variant has been reported in at least one individual with BRCA1-related conditions (Described as 2325delG, Lancaster et al. 1997. PubMed ID: 9254884). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in BRCA1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000083180 SCV000115254 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083180 SCV000144336 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 no assertion criteria provided clinical testing

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