19-43544178-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006297.3(XRCC1):c.1678C>T(p.Arg560Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000272 in 1,610,396 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_006297.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 151882Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000138 AC: 34AN: 245494Hom.: 0 AF XY: 0.000159 AC XY: 21AN XY: 132478
GnomAD4 exome AF: 0.000281 AC: 410AN: 1458514Hom.: 0 Cov.: 31 AF XY: 0.000251 AC XY: 182AN XY: 725060
GnomAD4 genome AF: 0.000184 AC: 28AN: 151882Hom.: 0 Cov.: 31 AF XY: 0.000189 AC XY: 14AN XY: 74154
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at