ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5496_5506delinsA (p.Val1833fs) (rs273902775)

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Total submissions: 6
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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) RCV000112681 SCV000783569 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112681 SCV000326340 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000582609 SCV000688639 pathogenic Hereditary cancer-predisposing syndrome 2016-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000657203 SCV000778929 pathogenic not provided 2017-11-24 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted BRCA1 c.5496_5506del11insA at the cDNA level and p.Val1833SerfsX7 (V1833SfsX7) at the protein level. The surrounding sequence is CTGT[del11][insA]AGTG. The variant causes a frameshift, which changes a Valine to a Serine at codon 1833, and creates a premature stop codon at position 7 of the new reading frame. Due to the position of the variant, nonsense mediated decay is not expected to occur, but the variant might cause loss of normal protein function through protein truncation. The disrupted region at the end of the gene includes a portion of the BRCT2 domain and a region known to interact with multiple proteins (Paul 2014, UniProt). BRCA1 c.5496_5506del11insA has been observed in multiple breast and/or ovarian cancer families and has been reported as a possible Korean founder variant (Ahn 2007, Seong 2009, Han 2011, Jang 2012, Kim 2012, Kim 2017). Based on currently available information, we consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000657203 SCV000888949 pathogenic not provided 2017-11-24 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112681 SCV000145547 pathogenic Breast-ovarian cancer, familial 1 2006-07-19 no assertion criteria provided clinical testing

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