ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5126del (p.Gly1709fs) (rs80357874)

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Total submissions: 4
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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) RCV000112501 SCV000300205 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 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 RCV000112501 SCV000326161 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000478169 SCV000568398 pathogenic not provided 2016-10-25 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.5126delG at the cDNA level and p.Gly1709GlufsX5 (G1709EfsX5) at the protein level. The normal sequence, with the base that is deleted in braces, is GCGG[G]AGGA. The deletion causes a frameshift which changes a Glycine to a Glutamic Acid at codon 1709, and creates a premature stop codon at position 5 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. BRCA1 c.5126delG has been reported in at least one individual with breast cancer and a family history of breast and/or ovarian cancer (Peyrat 1998). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112501 SCV000145321 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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