NM_001134707.2:c.2455G>T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001134707.2(SARDH):c.2455G>T(p.Ala819Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000701 in 1,427,100 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001134707.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2455G>T | p.Ala819Ser | missense_variant | Exon 19 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2455G>T | p.Ala819Ser | missense_variant | Exon 19 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.739G>T | p.Ala247Ser | missense_variant | Exon 7 of 9 | 2 | ENSP00000360934.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.01e-7 AC: 1AN: 1427100Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 706754
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.