chr7-76048200-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005918.4(MDH2):c.40C>G(p.Arg14Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R14H) has been classified as Uncertain significance.
Frequency
Consequence
NM_005918.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MDH2 | NM_005918.4 | c.40C>G | p.Arg14Gly | missense_variant | 1/9 | ENST00000315758.10 | |
MDH2 | NM_001282403.2 | c.40C>G | p.Arg14Gly | missense_variant | 1/8 | ||
MDH2 | NM_001282404.2 | c.-113C>G | 5_prime_UTR_variant | 1/8 | |||
MDH2 | NR_104165.2 | n.95C>G | non_coding_transcript_exon_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MDH2 | ENST00000315758.10 | c.40C>G | p.Arg14Gly | missense_variant | 1/9 | 1 | NM_005918.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 35
GnomAD4 exome Cov.: 37
GnomAD4 genome ? Cov.: 35
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 30, 2023 | The p.R14G variant (also known as c.40C>G), located in coding exon 1 of the MDH2 gene, results from a C to G substitution at nucleotide position 40. The arginine at codon 14 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.