12-128415076-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001136103.3(TMEM132C):c.430C>T(p.Arg144Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000705 in 1,601,884 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_001136103.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM132C | NM_001136103.3 | c.430C>T | p.Arg144Trp | missense_variant | Exon 2 of 9 | ENST00000435159.3 | NP_001129575.2 | |
TMEM132C | NM_001387058.1 | c.370C>T | p.Arg124Trp | missense_variant | Exon 2 of 9 | NP_001373987.1 | ||
TMEM132C | XM_047429886.1 | c.430C>T | p.Arg144Trp | missense_variant | Exon 2 of 9 | XP_047285842.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000389 AC: 9AN: 231574Hom.: 0 AF XY: 0.0000320 AC XY: 4AN XY: 124870
GnomAD4 exome AF: 0.0000759 AC: 110AN: 1449718Hom.: 0 Cov.: 30 AF XY: 0.0000708 AC XY: 51AN XY: 719966
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.430C>T (p.R144W) alteration is located in exon 2 (coding exon 2) of the TMEM132C gene. This alteration results from a C to T substitution at nucleotide position 430, causing the arginine (R) at amino acid position 144 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