chr12-50843883-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182559.3(TMPRSS12):c.229C>T(p.Arg77Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000147 in 1,565,870 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182559.3 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 |
---|---|---|---|---|---|---|---|---|
TMPRSS12 | NM_182559.3 | c.229C>T | p.Arg77Trp | missense_variant | Exon 2 of 5 | ENST00000398458.4 | NP_872365.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152072Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000167 AC: 3AN: 179702Hom.: 0 AF XY: 0.0000105 AC XY: 1AN XY: 95188
GnomAD4 exome AF: 0.00000354 AC: 5AN: 1413680Hom.: 0 Cov.: 30 AF XY: 0.00000286 AC XY: 2AN XY: 698622
GnomAD4 genome AF: 0.000118 AC: 18AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74422
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.229C>T (p.R77W) alteration is located in exon 2 (coding exon 2) of the TMPRSS12 gene. This alteration results from a C to T substitution at nucleotide position 229, causing the arginine (R) at amino acid position 77 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