9-133733963-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001134707.2(SARDH):c.211G>A(p.Val71Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,457,868 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. V71F) has been classified as Uncertain significance.
Frequency
Consequence
NM_001134707.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SARDH | NM_001134707.2 | c.211G>A | p.Val71Ile | missense_variant | 2/21 | ENST00000439388.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.211G>A | p.Val71Ile | missense_variant | 2/21 | 2 | NM_001134707.2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 244190Hom.: 0 AF XY: 0.00000751 AC XY: 1AN XY: 133104
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457868Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725156
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at