rs150597240
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000441.2(SLC26A4):c.2291C>G(p.Thr764Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000698 in 1,433,586 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 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. T764M) 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC26A4 | NM_000441.2 | c.2291C>G | p.Thr764Arg | missense_variant | 20/21 | ENST00000644269.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC26A4 | ENST00000644269.2 | c.2291C>G | p.Thr764Arg | missense_variant | 20/21 | NM_000441.2 | P1 | ||
SLC26A4 | ENST00000492030.2 | n.477C>G | non_coding_transcript_exon_variant | 5/6 | 5 | ||||
SLC26A4 | ENST00000644846.1 | c.*193C>G | 3_prime_UTR_variant, NMD_transcript_variant | 9/10 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.98e-7 AC: 1AN: 1433586Hom.: 0 Cov.: 26 AF XY: 0.00000140 AC XY: 1AN XY: 714986
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at