chr3-51662824-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_015106.4(RAD54L2):c.3808C>T(p.Arg1270Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000695 in 1,612,010 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: 0.0000723 AC: 11AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000569 AC: 14AN: 246068Hom.: 0 AF XY: 0.0000600 AC XY: 8AN XY: 133292
GnomAD4 exome AF: 0.0000692 AC: 101AN: 1459668Hom.: 0 Cov.: 32 AF XY: 0.0000675 AC XY: 49AN XY: 725968
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152342Hom.: 0 Cov.: 32 AF XY: 0.0000671 AC XY: 5AN XY: 74484
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3808C>T (p.R1270W) alteration is located in exon 22 (coding exon 21) of the RAD54L2 gene. This alteration results from a C to T substitution at nucleotide position 3808, causing the arginine (R) at amino acid position 1270 to be replaced by a tryptophan (W). 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