chr3-49722998-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_021971.4(GMPPB):c.376C>T(p.His126Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,466 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H126D) has been classified as Likely benign.
Frequency
Consequence
NM_021971.4 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 Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250542Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135612
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461466Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727042
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at