2-3603636-G-A
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM2BP4_StrongBP6BS1
The NM_001255985.1(COLEC11):c.-10G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000343 in 1,550,918 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 Likely benign (no stars).
Frequency
Consequence
NM_001255985.1 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00152 AC: 231AN: 152074Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000285 AC: 43AN: 150928Hom.: 0 AF XY: 0.000210 AC XY: 17AN XY: 80918
GnomAD4 exome AF: 0.000215 AC: 301AN: 1398726Hom.: 0 Cov.: 30 AF XY: 0.000199 AC XY: 137AN XY: 689858
GnomAD4 genome AF: 0.00152 AC: 231AN: 152192Hom.: 0 Cov.: 33 AF XY: 0.00149 AC XY: 111AN XY: 74394
ClinVar
Submissions by phenotype
COLEC11-related disorder Benign:1
This variant is classified as likely 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