rs6669481
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000340781.8(SLC26A9):c.2410A>T(p.Arg804Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000659 in 151,840 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. 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. R804G) has been classified as Benign.
Frequency
Consequence
ENST00000340781.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC26A9 | NM_052934.4 | c.*211A>T | 3_prime_UTR_variant | 21/21 | ENST00000367135.8 | ||
SLC26A9 | NM_134325.3 | c.2410A>T | p.Arg804Trp | missense_variant | 22/22 | ||
SLC26A9 | XM_011509121.3 | c.*211A>T | 3_prime_UTR_variant | 20/20 | |||
SLC26A9 | XM_011509122.3 | c.*211A>T | 3_prime_UTR_variant | 18/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC26A9 | ENST00000340781.8 | c.2410A>T | p.Arg804Trp | missense_variant | 21/21 | 1 | |||
SLC26A9 | ENST00000367135.8 | c.*211A>T | 3_prime_UTR_variant | 21/21 | 1 | NM_052934.4 | P1 | ||
SLC26A9 | ENST00000367134.2 | c.2410A>T | p.Arg804Trp | missense_variant | 22/22 | 5 | |||
SLC26A9 | ENST00000491127.5 | n.1971A>T | non_coding_transcript_exon_variant | 13/13 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151840Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151840Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74148
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at