rs73070954
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005896.4(IDH1):c.211G>T(p.Val71Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V71I) has been classified as Benign.
Frequency
Consequence
NM_005896.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IDH1 | NM_005896.4 | c.211G>T | p.Val71Phe | missense_variant | 4/10 | ENST00000345146.7 | |
IDH1 | NM_001282386.1 | c.211G>T | p.Val71Phe | missense_variant | 4/10 | ||
IDH1 | NM_001282387.1 | c.211G>T | p.Val71Phe | missense_variant | 4/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IDH1 | ENST00000345146.7 | c.211G>T | p.Val71Phe | missense_variant | 4/10 | 1 | NM_005896.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 32
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.