rs2295852
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_052961.4(SLC26A8):āc.1915A>Gā(p.Ile639Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.356 in 1,613,794 control chromosomes in the GnomAD database, including 107,216 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_052961.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC26A8 | NM_052961.4 | c.1915A>G | p.Ile639Val | missense_variant | 17/20 | ENST00000490799.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC26A8 | ENST00000490799.6 | c.1915A>G | p.Ile639Val | missense_variant | 17/20 | 1 | NM_052961.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.420 AC: 63777AN: 151864Hom.: 15044 Cov.: 31
GnomAD3 exomes AF: 0.335 AC: 84110AN: 251336Hom.: 15475 AF XY: 0.333 AC XY: 45172AN XY: 135832
GnomAD4 exome AF: 0.349 AC: 510559AN: 1461812Hom.: 92129 Cov.: 43 AF XY: 0.346 AC XY: 251855AN XY: 727204
GnomAD4 genome ? AF: 0.420 AC: 63863AN: 151982Hom.: 15087 Cov.: 31 AF XY: 0.414 AC XY: 30730AN XY: 74266
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 12, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at