7-107710095-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_000441.2(SLC26A4):c.2131G>T(p.Asp711Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000366 in 1,611,582 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar 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 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC26A4 | ENST00000644269.2 | c.2131G>T | p.Asp711Tyr | missense_variant | Exon 19 of 21 | NM_000441.2 | ENSP00000494017.1 | |||
SLC26A4 | ENST00000644846.1 | n.*33G>T | non_coding_transcript_exon_variant | Exon 8 of 10 | ENSP00000494344.1 | |||||
SLC26A4 | ENST00000644846.1 | n.*33G>T | 3_prime_UTR_variant | Exon 8 of 10 | ENSP00000494344.1 | |||||
SLC26A4 | ENST00000492030.2 | n.377-60G>T | intron_variant | Intron 3 of 5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251272Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135794
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1459282Hom.: 0 Cov.: 29 AF XY: 0.0000179 AC XY: 13AN XY: 726184
GnomAD4 genome AF: 0.000184 AC: 28AN: 152300Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74486
ClinVar
Submissions by phenotype
not provided Uncertain:1
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at