17-63910284-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_022579.3(CSHL1):c.349C>T(p.Arg117Trp) variant causes a missense change. The variant allele was found at a frequency of 0.000104 in 1,614,120 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. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_022579.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000955 AC: 24AN: 251392Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135886
GnomAD4 exome AF: 0.0000930 AC: 136AN: 1461832Hom.: 0 Cov.: 85 AF XY: 0.0000880 AC XY: 64AN XY: 727218
GnomAD4 genome AF: 0.000210 AC: 32AN: 152288Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74454
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at