17-7355301-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.97C>T(p.Arg33Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000031 in 1,613,972 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
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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.97C>T | p.Arg33Trp | missense_variant | Exon 1 of 7 | 1 | NM_001320436.2 | ENSP00000460828.1 | ||
TMEM95 | ENST00000389982.8 | c.97C>T | p.Arg33Trp | missense_variant | Exon 1 of 7 | 1 | ENSP00000374632.4 | |||
TMEM95 | ENST00000330767.4 | c.97C>T | p.Arg33Trp | missense_variant | Exon 1 of 7 | 1 | ENSP00000331466.4 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152226Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250716Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135684
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1461746Hom.: 0 Cov.: 33 AF XY: 0.0000385 AC XY: 28AN XY: 727170
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.97C>T (p.R33W) alteration is located in exon 1 (coding exon 1) of the TMEM95 gene. This alteration results from a C to T substitution at nucleotide position 97, causing the arginine (R) at amino acid position 33 to be replaced by a tryptophan (W). 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