NM_024027.5:c.130+1784T>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_024027.5(COLEC11):c.130+1784T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.699 in 1,548,874 control chromosomes in the GnomAD database, including 382,192 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_024027.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.688 AC: 104553AN: 151894Hom.: 36423 Cov.: 31
GnomAD3 exomes AF: 0.753 AC: 110397AN: 146552Hom.: 42301 AF XY: 0.758 AC XY: 59903AN XY: 79032
GnomAD4 exome AF: 0.701 AC: 978659AN: 1396862Hom.: 345736 Cov.: 37 AF XY: 0.706 AC XY: 486736AN XY: 689028
GnomAD4 genome AF: 0.688 AC: 104644AN: 152012Hom.: 36456 Cov.: 31 AF XY: 0.701 AC XY: 52093AN XY: 74282
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at