7-100157126-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_018275.5(TRAPPC14):c.813C>T(p.Pro271Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000455 in 1,614,194 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_018275.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00208 AC: 316AN: 152198Hom.: 4 Cov.: 33
GnomAD3 exomes AF: 0.000537 AC: 135AN: 251476Hom.: 0 AF XY: 0.000464 AC XY: 63AN XY: 135914
GnomAD4 exome AF: 0.000285 AC: 416AN: 1461878Hom.: 5 Cov.: 33 AF XY: 0.000260 AC XY: 189AN XY: 727238
GnomAD4 genome AF: 0.00209 AC: 319AN: 152316Hom.: 4 Cov.: 33 AF XY: 0.00179 AC XY: 133AN XY: 74484
ClinVar
Submissions by phenotype
TRAPPC14-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at