2-63597407-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005917.4(MDH1):c.208G>A(p.Ala70Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000398 in 1,427,172 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005917.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000309 AC: 47AN: 152170Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000855 AC: 144AN: 168414Hom.: 4 AF XY: 0.00106 AC XY: 98AN XY: 92670
GnomAD4 exome AF: 0.000409 AC: 522AN: 1274884Hom.: 13 Cov.: 30 AF XY: 0.000578 AC XY: 360AN XY: 623174
GnomAD4 genome AF: 0.000302 AC: 46AN: 152288Hom.: 0 Cov.: 33 AF XY: 0.000510 AC XY: 38AN XY: 74458
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at