ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.-20+11C>T (rs273898672)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123934 SCV000167321 benign not specified 2014-01-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000111489 SCV000489588 likely benign Breast-ovarian cancer, familial 1 2016-10-25 criteria provided, single submitter clinical testing
Invitae RCV000860869 SCV001001040 benign Hereditary breast and ovarian cancer syndrome 2020-12-01 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111489 SCV000143931 uncertain significance Breast-ovarian cancer, familial 1 1999-06-22 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353442 SCV000591226 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The c.-20+11C>T variant was not identified in the literature. It was reported in the dbSNP database (ID: rs273898672) but no frequency data was provided and so the variant’s frequency in the general population is not known. This variant occurs upstream of the start site and +11bp away from the exon/intron junction of non-coding exon 1 of the BRCA1 gene. The variant is located in the 5' splice region (or near the 3' splice site of exon 1) but does not affect the invariant +1 and +2 positions. This variant occurs outside of the splicing consensus sequence; +3 to +6 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. Furthermore, in-silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a significantly different splicing affect, increasing the likelihood this variant may not have clinical significance; although this information is not predictive enough to out pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time, although we would lean towards a more benign role for this variant. This variant is classified as predicted benign.

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