19-49157760-G-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP6BS1BS2
The ENST00000598691(TRPM4):c.-107G>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 0.00196 in 1,470,546 control chromosomes in the GnomAD database, including 34 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
ENST00000598691 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00273 AC: 416AN: 152194Hom.: 3 Cov.: 31
GnomAD4 exome AF: 0.00186 AC: 2446AN: 1318234Hom.: 29 Cov.: 21 AF XY: 0.00237 AC XY: 1545AN XY: 651060
GnomAD4 genome AF: 0.00286 AC: 435AN: 152312Hom.: 5 Cov.: 31 AF XY: 0.00322 AC XY: 240AN XY: 74480
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
TRPM4: BS1, BS2 -
- -
Progressive familial heart block Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at