2-74490339-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001376138.1(TTC31):c.-105C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000892 in 1,613,930 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_001376138.1 5_prime_UTR_premature_start_codon_gain
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: 0.0000921 AC: 14AN: 152054Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000842 AC: 21AN: 249490Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135360
GnomAD4 exome AF: 0.0000889 AC: 130AN: 1461876Hom.: 0 Cov.: 33 AF XY: 0.0000825 AC XY: 60AN XY: 727244
GnomAD4 genome AF: 0.0000921 AC: 14AN: 152054Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74254
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.328C>T (p.R110C) alteration is located in exon 4 (coding exon 4) of the TTC31 gene. This alteration results from a C to T substitution at nucleotide position 328, causing the arginine (R) at amino acid position 110 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