rs28903081
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005432.4(XRCC3):c.905G>T(p.Arg302Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000207 in 1,447,868 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R302H) has been classified as Likely benign.
Frequency
Consequence
NM_005432.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
XRCC3 | NM_005432.4 | c.905G>T | p.Arg302Leu | missense_variant | 10/10 | ENST00000555055.6 | NP_005423.1 | |
KLC1 | NM_001394837.1 | c.1849-1721C>A | intron_variant | ENST00000334553.11 | NP_001381766.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
XRCC3 | ENST00000555055.6 | c.905G>T | p.Arg302Leu | missense_variant | 10/10 | 1 | NM_005432.4 | ENSP00000452598 | P1 | |
KLC1 | ENST00000334553.11 | c.1849-1721C>A | intron_variant | 5 | NM_001394837.1 | ENSP00000334523 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000448 AC: 1AN: 223288Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 121434
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1447868Hom.: 0 Cov.: 31 AF XY: 0.00000139 AC XY: 1AN XY: 719048
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at