rs5023
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000342.4(SLC4A1):āc.2068A>Gā(p.Ser690Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,459,880 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000342.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC4A1 | NM_000342.4 | c.2068A>G | p.Ser690Gly | missense_variant | 17/20 | ENST00000262418.12 | |
SLC4A1 | XM_011525129.3 | c.1978A>G | p.Ser660Gly | missense_variant | 16/19 | ||
SLC4A1 | XM_005257593.6 | c.1873A>G | p.Ser625Gly | missense_variant | 15/18 | ||
SLC4A1 | XM_011525130.2 | c.2068A>G | p.Ser690Gly | missense_variant | 17/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC4A1 | ENST00000262418.12 | c.2068A>G | p.Ser690Gly | missense_variant | 17/20 | 1 | NM_000342.4 | P1 | |
SLC4A1 | ENST00000399246.3 | c.970A>G | p.Ser324Gly | missense_variant | 12/15 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1459880Hom.: 0 Cov.: 32 AF XY: 0.00000276 AC XY: 2AN XY: 725884
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at