ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.512dup (p.Gln172fs) (rs587781487)

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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) RCV000241064 SCV000299469 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000129450 SCV000184220 pathogenic Hereditary cancer-predisposing syndrome 2018-02-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000168444 SCV000219141 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln172Thrfs*10) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual affected with breast and/or ovarian cancer (PMID: 26911350). ClinVar contains an entry for this variant (Variation ID: 141091). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000236963 SCV000293092 pathogenic not provided 2016-11-28 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.512dupT at the cDNA level and p.Gln172ThrfsX10 (Q172TfsX10) at the protein level. The normal sequence, with the base that is duplicated in brackets, is CGGA[dupT]ACAA. The duplication causes a frameshift, which changes a Glutamine to a Threonine at codon 172, and creates a premature stop codon at position 10 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCAc.512dupT has been reported in association with breast and ovarian cancer (Mannan 2016). We consider this variant to be pathogenic.
Bioinformatics dept.,Datar Cancer Genetics Limited, India RCV000241064 SCV000583608 pathogenic Breast-ovarian cancer, familial 1 2017-07-06 criteria provided, single submitter clinical testing

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