9-133670612-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001134707.2(SARDH):c.2467C>T(p.Arg823Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000456 in 1,578,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2467C>T | p.Arg823Trp | missense_variant | Exon 19 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2467C>T | p.Arg823Trp | missense_variant | Exon 19 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.751C>T | p.Arg251Trp | missense_variant | Exon 7 of 9 | 2 | ENSP00000360934.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152200Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000373 AC: 7AN: 187720Hom.: 0 AF XY: 0.0000197 AC XY: 2AN XY: 101704
GnomAD4 exome AF: 0.0000456 AC: 65AN: 1426054Hom.: 0 Cov.: 32 AF XY: 0.0000510 AC XY: 36AN XY: 706114
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152200Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2467C>T (p.R823W) 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 2467, causing the arginine (R) at amino acid position 823 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