chr2-190927351-G-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_014905.5(GLS):c.1294G>T(p.Ala432Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00111 in 1,613,624 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_014905.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00499 AC: 760AN: 152198Hom.: 8 Cov.: 32
GnomAD3 exomes AF: 0.00126 AC: 316AN: 251058Hom.: 3 AF XY: 0.000936 AC XY: 127AN XY: 135676
GnomAD4 exome AF: 0.000705 AC: 1030AN: 1461308Hom.: 5 Cov.: 30 AF XY: 0.000630 AC XY: 458AN XY: 726972
GnomAD4 genome AF: 0.00498 AC: 759AN: 152316Hom.: 8 Cov.: 32 AF XY: 0.00487 AC XY: 363AN XY: 74470
ClinVar
Submissions by phenotype
GLS-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
GLS: PP2, BS1, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at