5-157460125-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000517951.5(ADAM19):n.*1741+28140T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.351 in 1,410,364 control chromosomes in the GnomAD database, including 90,158 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000517951.5 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.376 AC: 57139AN: 151908Hom.: 11131 Cov.: 33
GnomAD3 exomes AF: 0.368 AC: 17039AN: 46260Hom.: 3459 AF XY: 0.371 AC XY: 8811AN XY: 23770
GnomAD4 exome AF: 0.348 AC: 438407AN: 1258338Hom.: 79010 Cov.: 28 AF XY: 0.348 AC XY: 212080AN XY: 609606
GnomAD4 genome AF: 0.376 AC: 57188AN: 152026Hom.: 11148 Cov.: 33 AF XY: 0.379 AC XY: 28202AN XY: 74318
ClinVar
Submissions by phenotype
not specified Benign:3
- -
- -
- -
Autosomal recessive congenital ichthyosis 6 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at