NM_001931.5:c.165C>G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6BP7
The NM_001931.5(DLAT):āc.165C>Gā(p.Val55Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,613,346 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001931.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152158Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000570 AC: 14AN: 245474Hom.: 0 AF XY: 0.0000747 AC XY: 10AN XY: 133852
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461070Hom.: 0 Cov.: 34 AF XY: 0.0000193 AC XY: 14AN XY: 726842
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152276Hom.: 1 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74438
ClinVar
Submissions by phenotype
Leigh syndrome Uncertain:1
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not provided Uncertain:1
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not specified Benign:1
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. -
Pyruvate dehydrogenase E2 deficiency Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at