17-7355850-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001320436.2(TMEM95):c.239C>T(p.Ala80Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000126 in 1,613,872 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001320436.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM95 | ENST00000576060.6 | c.239C>T | p.Ala80Val | missense_variant | Exon 3 of 7 | 1 | NM_001320436.2 | ENSP00000460828.1 | ||
TMEM95 | ENST00000389982.8 | c.239C>T | p.Ala80Val | missense_variant | Exon 3 of 7 | 1 | ENSP00000374632.4 | |||
TMEM95 | ENST00000330767.4 | c.239C>T | p.Ala80Val | missense_variant | Exon 3 of 7 | 1 | ENSP00000331466.4 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152026Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000183 AC: 46AN: 251388Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135864
GnomAD4 exome AF: 0.000127 AC: 186AN: 1461846Hom.: 0 Cov.: 34 AF XY: 0.000122 AC XY: 89AN XY: 727224
GnomAD4 genome AF: 0.000118 AC: 18AN: 152026Hom.: 0 Cov.: 31 AF XY: 0.0000808 AC XY: 6AN XY: 74236
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.239C>T (p.A80V) alteration is located in exon 3 (coding exon 3) of the TMEM95 gene. This alteration results from a C to T substitution at nucleotide position 239, causing the alanine (A) at amino acid position 80 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