16-11841816-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_015659.3(RSL1D1):c.734G>T(p.Trp245Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000651 in 1,613,208 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_015659.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000375 AC: 57AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000640 AC: 16AN: 250144Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135180
GnomAD4 exome AF: 0.0000329 AC: 48AN: 1460956Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 726722
GnomAD4 genome AF: 0.000374 AC: 57AN: 152252Hom.: 0 Cov.: 32 AF XY: 0.000309 AC XY: 23AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.734G>T (p.W245L) alteration is located in exon 7 (coding exon 7) of the RSL1D1 gene. This alteration results from a G to T substitution at nucleotide position 734, causing the tryptophan (W) at amino acid position 245 to be replaced by a leucine (L). 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