rs755846601
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_015106.4(RAD54L2):c.4273G>A(p.Gly1425Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,613,808 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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 Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251150Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135728
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461710Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 727138
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74296
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4273G>A (p.G1425S) alteration is located in exon 22 (coding exon 21) of the RAD54L2 gene. This alteration results from a G to A substitution at nucleotide position 4273, causing the glycine (G) at amino acid position 1425 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at