17-43125524-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001408458.1(BRCA1):c.-61-9745G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00244 in 324,762 control chromosomes in the GnomAD database, including 12 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 |
---|---|---|---|---|---|---|---|---|---|---|
BRCA1 | ENST00000634433.2 | c.-19-1409G>A | intron_variant | Intron 1 of 20 | 5 | ENSP00000489431.2 | ||||
BRCA1 | ENST00000471181.7 | c.-273G>A | upstream_gene_variant | 1 | ENSP00000418960.2 | |||||
BRCA1 | ENST00000652672.2 | c.-527G>A | upstream_gene_variant | ENSP00000498906.2 | ||||||
NBR2 | ENST00000657841.1 | n.-27C>T | upstream_gene_variant |
Frequencies
GnomAD3 genomes AF: 0.00454 AC: 691AN: 152184Hom.: 8 Cov.: 32
GnomAD4 exome AF: 0.000493 AC: 85AN: 172460Hom.: 2 Cov.: 0 AF XY: 0.000470 AC XY: 44AN XY: 93590
GnomAD4 genome AF: 0.00464 AC: 707AN: 152302Hom.: 10 Cov.: 32 AF XY: 0.00446 AC XY: 332AN XY: 74470
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 0.02 (African), derived from 1000 genomes (2012-04-30). -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at