5-149977400-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_000112.4(SLC26A2):c.-25-228G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.182 in 152,062 control chromosomes in the GnomAD database, including 2,834 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_000112.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC26A2 | ENST00000286298.5 | c.-25-228G>A | intron_variant | Intron 1 of 2 | 1 | NM_000112.4 | ENSP00000286298.4 | |||
SLC26A2 | ENST00000433184.1 | c.-25-228G>A | intron_variant | Intron 2 of 2 | 4 | ENSP00000405496.1 | ||||
SLC26A2 | ENST00000690410.1 | n.208-228G>A | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.182 AC: 27637AN: 151944Hom.: 2823 Cov.: 32
GnomAD4 genome AF: 0.182 AC: 27679AN: 152062Hom.: 2834 Cov.: 32 AF XY: 0.183 AC XY: 13612AN XY: 74340
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at