rs760936213
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001134707.2(SARDH):c.2449C>T(p.Arg817Trp) variant causes a missense change. The variant allele was found at a frequency of 0.000074 in 1,582,082 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2449C>T | p.Arg817Trp | missense_variant | Exon 19 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2449C>T | p.Arg817Trp | missense_variant | Exon 19 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.733C>T | p.Arg245Trp | missense_variant | Exon 7 of 9 | 2 | ENSP00000360934.1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152194Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000141 AC: 27AN: 191964Hom.: 0 AF XY: 0.000154 AC XY: 16AN XY: 104174
GnomAD4 exome AF: 0.0000734 AC: 105AN: 1429888Hom.: 0 Cov.: 32 AF XY: 0.0000918 AC XY: 65AN XY: 708424
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152194Hom.: 1 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2449C>T (p.R817W) alteration is located in exon 19 (coding exon 18) of the SARDH gene. This alteration results from a C to T substitution at nucleotide position 2449, causing the arginine (R) at amino acid position 817 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at