rs121909395
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 7P and 4B. PM5PP3_StrongPP5BS2
The NM_001174089.2(SLC4A11):āc.589T>Cā(p.Ser197Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000123 in 1,461,124 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S197L) has been classified as Pathogenic.
Frequency
Consequence
NM_001174089.2 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 |
---|---|---|---|---|---|---|---|
SLC4A11 | NM_001174089.2 | c.589T>C | p.Ser197Pro | missense_variant | 6/20 | ENST00000642402.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC4A11 | ENST00000642402.1 | c.589T>C | p.Ser197Pro | missense_variant | 6/20 | NM_001174089.2 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251196Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135758
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461124Hom.: 0 Cov.: 35 AF XY: 0.0000110 AC XY: 8AN XY: 726834
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Corneal dystrophy-perceptive deafness syndrome Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 01, 2007 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at