4-163515428-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018352.3(TMA16):c.355C>T(p.Arg119Trp) variant causes a missense change. The variant allele was found at a frequency of 0.000284 in 1,613,846 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_018352.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000362 AC: 55AN: 152008Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000425 AC: 106AN: 249262Hom.: 0 AF XY: 0.000407 AC XY: 55AN XY: 135232
GnomAD4 exome AF: 0.000276 AC: 404AN: 1461720Hom.: 0 Cov.: 30 AF XY: 0.000308 AC XY: 224AN XY: 727154
GnomAD4 genome AF: 0.000362 AC: 55AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.000336 AC XY: 25AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.355C>T (p.R119W) alteration is located in exon 5 (coding exon 5) of the TMA16 gene. This alteration results from a C to T substitution at nucleotide position 355, causing the arginine (R) at amino acid position 119 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