chr3-51663026-G-A
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP2BP4_StrongBS2
The NM_015106.4(RAD54L2):c.4010G>A(p.Arg1337His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000459 in 1,613,810 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015106.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAD54L2 | NM_015106.4 | c.4010G>A | p.Arg1337His | missense_variant | 23/23 | ENST00000684192.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAD54L2 | ENST00000684192.1 | c.4010G>A | p.Arg1337His | missense_variant | 23/23 | NM_015106.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152104Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000637 AC: 16AN: 251164Hom.: 0 AF XY: 0.0000737 AC XY: 10AN XY: 135728
GnomAD4 exome AF: 0.0000452 AC: 66AN: 1461706Hom.: 0 Cov.: 32 AF XY: 0.0000481 AC XY: 35AN XY: 727132
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152104Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at