rs7176149
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_014918.5(CHSY1):āc.303G>Cā(p.Arg101Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.161 in 1,589,722 control chromosomes in the GnomAD database, including 24,785 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_014918.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.235 AC: 35744AN: 151944Hom.: 5655 Cov.: 32
GnomAD3 exomes AF: 0.151 AC: 31076AN: 206342Hom.: 2914 AF XY: 0.148 AC XY: 16817AN XY: 113880
GnomAD4 exome AF: 0.154 AC: 220715AN: 1437660Hom.: 19128 Cov.: 33 AF XY: 0.153 AC XY: 108859AN XY: 713762
GnomAD4 genome AF: 0.235 AC: 35782AN: 152062Hom.: 5657 Cov.: 32 AF XY: 0.232 AC XY: 17213AN XY: 74330
ClinVar
Submissions by phenotype
not provided Benign:3
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Temtamy preaxial brachydactyly syndrome Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at