chr7-103374466-T-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBS1_Supporting
The ENST00000306312.8(SLC26A5):āc.2168A>Gā(p.Glu723Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000812 in 1,613,516 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000306312.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC26A5 | NM_198999.3 | c.2168A>G | p.Glu723Gly | missense_variant | 20/20 | ENST00000306312.8 | NP_945350.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC26A5 | ENST00000306312.8 | c.2168A>G | p.Glu723Gly | missense_variant | 20/20 | 1 | NM_198999.3 | ENSP00000304783 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000381 AC: 58AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000994 AC: 25AN: 251456Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135904
GnomAD4 exome AF: 0.0000479 AC: 70AN: 1461250Hom.: 0 Cov.: 32 AF XY: 0.0000454 AC XY: 33AN XY: 726936
GnomAD4 genome AF: 0.000401 AC: 61AN: 152266Hom.: 0 Cov.: 32 AF XY: 0.000484 AC XY: 36AN XY: 74456
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 05, 2023 | The c.2168A>G (p.E723G) alteration is located in exon 20 (coding exon 18) of the SLC26A5 gene. This alteration results from a A to G substitution at nucleotide position 2168, causing the glutamic acid (E) at amino acid position 723 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at