15-81332430-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001080532.3(TMC3):c.3292T>A(p.Ser1098Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000336 in 1,605,638 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_001080532.3 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: 0.000171 AC: 26AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000418 AC: 10AN: 239204Hom.: 0 AF XY: 0.0000308 AC XY: 4AN XY: 130028
GnomAD4 exome AF: 0.0000193 AC: 28AN: 1453314Hom.: 0 Cov.: 82 AF XY: 0.0000139 AC XY: 10AN XY: 721934
GnomAD4 genome AF: 0.000171 AC: 26AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3292T>A (p.S1098T) alteration is located in exon 22 (coding exon 22) of the TMC3 gene. This alteration results from a T to A substitution at nucleotide position 3292, causing the serine (S) at amino acid position 1098 to be replaced by a threonine (T). 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