chrX-101407915-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000169.3(GLA):c.-12G>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 0.0423 in 1,200,657 control chromosomes in the GnomAD database, including 1,251 homozygotes. There are 16,901 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000169.3 5_prime_UTR
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: 0.0658 AC: 7361AN: 111875Hom.: 280 Cov.: 23 AF XY: 0.0619 AC XY: 2110AN XY: 34069
GnomAD3 exomes AF: 0.0607 AC: 11095AN: 182916Hom.: 411 AF XY: 0.0577 AC XY: 3895AN XY: 67450
GnomAD4 exome AF: 0.0398 AC: 43354AN: 1088727Hom.: 970 Cov.: 30 AF XY: 0.0417 AC XY: 14778AN XY: 354697
GnomAD4 genome AF: 0.0659 AC: 7374AN: 111930Hom.: 281 Cov.: 23 AF XY: 0.0622 AC XY: 2123AN XY: 34134
ClinVar
Submissions by phenotype
not specified Benign:6
- -
-12G>A in the 5' UTR of GLA: This variant is not expected to have clinical signi ficance because it has been identified in 14.5% (467/3216) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs3027585) -
- -
- -
- -
- -
Fabry disease Benign:4
- -
- -
- -
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
not provided Benign:4
- -
This variant is associated with the following publications: (PMID: 25772321) -
- -
- -
Hypertrophic cardiomyopathy Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at