rs121918255
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PP3_StrongPP5
The ENST00000274813.4(MMUT):āc.2107G>Cā(p.Gly703Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,772 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 12/19 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
ENST00000274813.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MMUT | NM_000255.4 | c.2107G>C | p.Gly703Arg | missense_variant | 12/13 | ENST00000274813.4 | NP_000246.2 | |
MMUT | XM_005249143.4 | c.2107G>C | p.Gly703Arg | missense_variant | 12/13 | XP_005249200.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MMUT | ENST00000274813.4 | c.2107G>C | p.Gly703Arg | missense_variant | 12/13 | 1 | NM_000255.4 | ENSP00000274813 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251356Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135854
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461772Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727190
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
METHYLMALONIC ACIDURIA, mut(0) TYPE Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Apr 01, 1994 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at