rs61756687
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_201653.4(CHIA):āc.374A>Gā(p.Lys125Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.135 in 1,613,068 control chromosomes in the GnomAD database, including 16,038 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_201653.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.107 AC: 16223AN: 151832Hom.: 1087 Cov.: 31
GnomAD3 exomes AF: 0.108 AC: 27261AN: 251414Hom.: 1807 AF XY: 0.112 AC XY: 15239AN XY: 135868
GnomAD4 exome AF: 0.138 AC: 200937AN: 1461118Hom.: 14952 Cov.: 31 AF XY: 0.138 AC XY: 99950AN XY: 726898
GnomAD4 genome AF: 0.107 AC: 16223AN: 151950Hom.: 1086 Cov.: 31 AF XY: 0.105 AC XY: 7829AN XY: 74270
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at