Our verdict is Pathogenic. Variant got 17 ACMG points: 17P and 0B. PM1PM2_SupportingPM5PP3_StrongPP5_Very_Strong
The NM_007294(BRCA1):c.181T>A(p.Cys61Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C61F) has been classified as Uncertain significance.
Verdict is Pathogenic. Variant got 17 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
Breast-ovarian cancer, familial, susceptibility to, 1
|Pathogenic, criteria provided, single submitter||clinical testing||Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge||Oct 02, 2015||- -|
|Pathogenic, criteria provided, single submitter||clinical testing||Department of Molecular Diagnostics, Institute of Oncology Ljubljana||Apr 02, 2020||- -|
|not provided, no assertion provided||in vitro||Brotman Baty Institute, University of Washington||-||- -|
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