ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser) (rs80357272)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168502 SCV000076213 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131184 SCV000186131 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Conflicting evidence,Other data supporting benign classification,Co-occurence with mutation in same gene (phase unknown),Insufficient evidence
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240742 SCV000265876 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
GeneDx RCV000587116 SCV000568411 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3448C>T at the cDNA level, p.Pro1150Ser (P1150S) at the protein level, and results in the change of a Proline to a Serine (CCT>TCT). Using alternate nomenclature, this variant has been previously published as BRCA1 3567C>T. This variant was observed in individuals with breast cancer, but was also seen in controls (Katagiri 1996, Tang 1999, Belogianni 2004, Jang 2012, Yoon 2016, Zhong 2016, Li 2017, Ryu 2017). A homologous-directed repair assay demonstrated that this variant results in homologous recombination activity similar to the wildtype protein (Lu 2015). BRCA1 Pro1150Ser was observed at an allele frequency of 0.095% (18/18866) in individuals of East Asian ancestry in large population cohorts (Lek 2016). Since Proline and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Pro1150Ser occurs at a position that is conserved across species and is not located in a known functional domain. In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether BRCA1 Pro1150Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000587116 SCV000699033 likely benign not provided 2016-03-17 criteria provided, single submitter clinical testing
3DMed Clinical Laboratory Inc RCV000240742 SCV000803955 uncertain significance Neoplasm of the breast 2017-06-10 criteria provided, single submitter clinical testing
Color RCV000131184 SCV000902976 likely benign Hereditary cancer-predisposing syndrome 2015-12-30 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112099 SCV000144767 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000483961 SCV000587311 uncertain significance not specified 2014-01-31 no assertion criteria provided research

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