17-43127544-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001408458.1(BRCA1):c.-61-11765C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.493 in 151,924 control chromosomes in the GnomAD database, including 21,851 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★★).
Frequency
Consequence
NM_001408458.1 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NBR2 | ENST00000356906.7 | n.131+1774G>C | intron_variant | Intron 1 of 3 | 1 | |||||
BRCA1 | ENST00000634433.2 | c.-19-3429C>G | intron_variant | Intron 1 of 20 | 5 | ENSP00000489431.2 | ||||
NBR2 | ENST00000460115.5 | n.161+1774G>C | intron_variant | Intron 1 of 4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.492 AC: 74764AN: 151806Hom.: 21793 Cov.: 31
GnomAD4 genome AF: 0.493 AC: 74878AN: 151924Hom.: 21851 Cov.: 31 AF XY: 0.493 AC XY: 36596AN XY: 74230
ClinVar
Submissions by phenotype
Breast-ovarian cancer, familial, susceptibility to, 1 Benign:1
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.87 (African), 0.37 (European), derived from 1000 genomes (2012-04-30). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at