11-123885346-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001013743.3(TMEM225):c.80G>T(p.Gly27Val) 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001013743.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM225 | NM_001013743.3 | c.80G>T | p.Gly27Val | missense_variant | Exon 1 of 4 | ENST00000375026.7 | NP_001013765.2 | |
TMEM225 | XM_011542802.4 | c.80G>T | p.Gly27Val | missense_variant | Exon 1 of 3 | XP_011541104.1 | ||
TMEM225 | NM_001363605.2 | c.31+49G>T | intron_variant | Intron 1 of 3 | NP_001350534.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.80G>T (p.G27V) alteration is located in exon 1 (coding exon 1) of the TMEM225 gene. This alteration results from a G to T substitution at nucleotide position 80, causing the glycine (G) at amino acid position 27 to be replaced by a valine (V). Based on insufficient or conflicting evidence, 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.