1-111312237-C-T
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_201653.4(CHIA):c.103C>T(p.Arg35Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00234 in 1,614,084 control chromosomes in the GnomAD database, including 69 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R35Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_201653.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0124 AC: 1893AN: 152136Hom.: 33 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.00307 AC: 765AN: 249344 AF XY: 0.00212 show subpopulations
GnomAD4 exome AF: 0.00128 AC: 1878AN: 1461830Hom.: 36 Cov.: 33 AF XY: 0.00110 AC XY: 801AN XY: 727226 show subpopulations
GnomAD4 genome AF: 0.0125 AC: 1901AN: 152254Hom.: 33 Cov.: 31 AF XY: 0.0116 AC XY: 861AN XY: 74442 show subpopulations
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at