rs200779286
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_000441.2(SLC26A4):c.1409G>A(p.Arg470His) variant causes a missense change. The variant allele was found at a frequency of 0.0000242 in 1,613,014 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict 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. R470C) has been classified as Uncertain significance.
Frequency
Consequence
NM_000441.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC26A4 | NM_000441.2 | c.1409G>A | p.Arg470His | missense_variant | 12/21 | ENST00000644269.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC26A4 | ENST00000644269.2 | c.1409G>A | p.Arg470His | missense_variant | 12/21 | NM_000441.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 251032Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135652
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1460740Hom.: 0 Cov.: 30 AF XY: 0.0000303 AC XY: 22AN XY: 726754
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152274Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74470
ClinVar
Submissions by phenotype
Pendred syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | Mar 24, 2017 | - - |
Pendred syndrome;C3538946:Autosomal recessive nonsyndromic hearing loss 4 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Feb 18, 2022 | - - |
Autosomal recessive nonsyndromic hearing loss 4 Other:1
other, no assertion criteria provided | in vitro;literature only | National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center | Aug 20, 2019 | Benign effect in vitro experiment Benign effect in vitro experiment |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at