Submissions for variant NM_007294.4(BRCA1):c.5098del (p.Thr1700fs)

dbSNP: rs483353099

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000112498	SCV000300199	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.
GeneDx	RCV000657394	SCV000779127	pathogenic	not provided	2017-10-16	criteria provided, single submitter	clinical testing	This deletion of one nucleotide in BRCA1 is denoted c.5098delA at the cDNA level and p.Thr1700HisfsX2 (T1700HfsX2) at the protein level. The normal sequence, with the base that is deleted in brackets, is ACGG[delA]CACT. The deletion causes a frameshift which changes a Threonine to a Histidine at codon 1700, and creates a premature stop codon at position 2 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112498	SCV000145313	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2013-03-25	no assertion criteria provided	clinical testing