chr11-61397797-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PP3_Moderate
The NM_001173990.3(TMEM216):c.253C>G(p.Arg85Gly) 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 pathogenic outcome for this variant. 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. R85Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001173990.3 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 |
---|---|---|---|---|---|---|---|
TMEM216 | NM_001173990.3 | c.253C>G | p.Arg85Gly | missense_variant | 4/5 | ENST00000515837.7 | |
TMEM216 | NM_001173991.3 | c.253C>G | p.Arg85Gly | missense_variant | 4/5 | ||
TMEM216 | NM_016499.6 | c.70C>G | p.Arg24Gly | missense_variant | 4/5 | ||
TMEM216 | NM_001330285.2 | c.70C>G | p.Arg24Gly | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM216 | ENST00000515837.7 | c.253C>G | p.Arg85Gly | missense_variant | 4/5 | 2 | NM_001173990.3 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248910Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134992
GnomAD4 exome Cov.: 29
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at