6-35951189-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4BS2_Supporting
The NM_052961.4(SLC26A8):c.2446C>T(p.Arg816Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000219 in 1,597,830 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R816Q) has been classified as Benign.
Frequency
Consequence
NM_052961.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC26A8 | NM_052961.4 | c.2446C>T | p.Arg816Trp | missense_variant | 19/20 | ENST00000490799.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC26A8 | ENST00000490799.6 | c.2446C>T | p.Arg816Trp | missense_variant | 19/20 | 1 | NM_052961.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000204 AC: 3AN: 146928Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251440Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135890
GnomAD4 exome AF: 0.0000221 AC: 32AN: 1450902Hom.: 0 Cov.: 35 AF XY: 0.0000222 AC XY: 16AN XY: 721682
GnomAD4 genome AF: 0.0000204 AC: 3AN: 146928Hom.: 0 Cov.: 31 AF XY: 0.0000141 AC XY: 1AN XY: 71038
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at