chr4-989390-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_022042.4(SLC26A1):c.1549G>T(p.Gly517Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000637 in 1,569,370 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G517R) has been classified as Likely benign.
Frequency
Consequence
NM_022042.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC26A1 | NM_022042.4 | c.1549G>T | p.Gly517Trp | missense_variant | 3/3 | ENST00000398516.3 | |
IDUA | NM_000203.5 | c.299+1441C>A | intron_variant | ENST00000514224.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC26A1 | ENST00000398516.3 | c.1549G>T | p.Gly517Trp | missense_variant | 3/3 | 1 | NM_022042.4 | P1 | |
IDUA | ENST00000514224.2 | c.299+1441C>A | intron_variant | 2 | NM_000203.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152262Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.0000115 AC: 2AN: 173892Hom.: 0 AF XY: 0.0000107 AC XY: 1AN XY: 93366
GnomAD4 exome AF: 0.00000635 AC: 9AN: 1417108Hom.: 0 Cov.: 72 AF XY: 0.00000571 AC XY: 4AN XY: 700984
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152262Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at