9-133666858-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001134707.2(SARDH):āc.2508G>Cā(p.Met836Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,612,662 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001134707.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2508G>C | p.Met836Ile | missense_variant | Exon 20 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2508G>C | p.Met836Ile | missense_variant | Exon 20 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.858G>C | p.Met286Ile | missense_variant | Exon 8 of 9 | 2 | ENSP00000360934.1 | |||
SARDH | ENST00000469828.1 | n.266G>C | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152280Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000485 AC: 12AN: 247460Hom.: 0 AF XY: 0.0000372 AC XY: 5AN XY: 134282
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1460264Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 726314
GnomAD4 genome AF: 0.0000262 AC: 4AN: 152398Hom.: 0 Cov.: 32 AF XY: 0.0000268 AC XY: 2AN XY: 74528
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2508G>C (p.M836I) alteration is located in exon 20 (coding exon 19) of the SARDH gene. This alteration results from a G to C substitution at nucleotide position 2508, causing the methionine (M) at amino acid position 836 to be replaced by an isoleucine (I). 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