12-128414894-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001136103.3(TMEM132C):c.248C>A(p.Ser83Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000214 in 1,399,632 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM132C | NM_001136103.3 | c.248C>A | p.Ser83Tyr | missense_variant | Exon 2 of 9 | ENST00000435159.3 | NP_001129575.2 | |
TMEM132C | NM_001387058.1 | c.188C>A | p.Ser63Tyr | missense_variant | Exon 2 of 9 | NP_001373987.1 | ||
TMEM132C | XM_047429886.1 | c.248C>A | p.Ser83Tyr | missense_variant | Exon 2 of 9 | XP_047285842.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000214 AC: 3AN: 1399632Hom.: 0 Cov.: 30 AF XY: 0.00000290 AC XY: 2AN XY: 690350
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.248C>A (p.S83Y) alteration is located in exon 2 (coding exon 2) of the TMEM132C gene. This alteration results from a C to A substitution at nucleotide position 248, causing the serine (S) at amino acid position 83 to be replaced by a tyrosine (Y). 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.