rs149481147
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001134707.2(SARDH):c.860C>T(p.Pro287Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000868 in 1,612,588 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Affects (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P287A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001134707.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SARDH | NM_001134707.2 | c.860C>T | p.Pro287Leu | missense_variant | 6/21 | ENST00000439388.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.860C>T | p.Pro287Leu | missense_variant | 6/21 | 2 | NM_001134707.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000591 AC: 9AN: 152192Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000100 AC: 25AN: 249720Hom.: 0 AF XY: 0.0000888 AC XY: 12AN XY: 135108
GnomAD4 exome AF: 0.0000897 AC: 131AN: 1460278Hom.: 1 Cov.: 33 AF XY: 0.0000771 AC XY: 56AN XY: 726530
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152310Hom.: 0 Cov.: 33 AF XY: 0.0000806 AC XY: 6AN XY: 74468
ClinVar
Submissions by phenotype
Sarcosine dehydrogenase deficiency Other:1
Affects, no assertion criteria provided | literature only | OMIM | Nov 01, 2012 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at