1-26994315-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001013642.3(TRNP1):c.529C>T(p.Arg177Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000178 in 1,122,086 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001013642.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRNP1 | NM_001013642.3 | c.529C>T | p.Arg177Cys | missense_variant | Exon 1 of 2 | ENST00000522111.3 | NP_001013664.2 | |
TRNP1 | XM_005245867.4 | c.529C>T | p.Arg177Cys | missense_variant | Exon 1 of 2 | XP_005245924.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000678 AC: 1AN: 147556Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000103 AC: 1AN: 974530Hom.: 0 Cov.: 31 AF XY: 0.00000218 AC XY: 1AN XY: 458204
GnomAD4 genome AF: 0.00000678 AC: 1AN: 147556Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 71828
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.529C>T (p.R177C) alteration is located in exon 1 (coding exon 1) of the TRNP1 gene. This alteration results from a C to T substitution at nucleotide position 529, causing the arginine (R) at amino acid position 177 to be replaced by a cysteine (C). 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