ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.201_202TA[1] (p.Ile68fs) (rs398122651)

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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) RCV000077090 SCV000299424 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 RCV000132360 SCV000187449 pathogenic Hereditary cancer-predisposing syndrome 2019-06-03 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000159896 SCV000209999 pathogenic not provided 2014-03-11 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.203_204delTA at the cDNA level and p.Ile68AsnfsX12 (I68NfsX12) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GATA[delTA]ACCA. The deletion causes a frameshift, which changes an Isoleucine to an Asparagine at codon 68, and creates a premature stop codon at position 12 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. Although this variant has not been previously reported to our knowledge, it is considered pathogenic.
Invitae RCV001065885 SCV001230873 pathogenic Hereditary breast and ovarian cancer syndrome 2019-04-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile68Asnfs*12) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91573). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077090 SCV000108887 pathogenic Breast-ovarian cancer, familial 1 2011-08-24 no assertion criteria provided clinical testing

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