rs121912740
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000262418.12(SLC4A1):āc.1972G>Cā(p.Glu658Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,800 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E658K) has been classified as Likely benign.
Frequency
Consequence
ENST00000262418.12 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC4A1 | NM_000342.4 | c.1972G>C | p.Glu658Gln | missense_variant | 16/20 | ENST00000262418.12 | NP_000333.1 | |
SLC4A1 | XM_011525129.3 | c.1882G>C | p.Glu628Gln | missense_variant | 15/19 | XP_011523431.1 | ||
SLC4A1 | XM_005257593.6 | c.1777G>C | p.Glu593Gln | missense_variant | 14/18 | XP_005257650.1 | ||
SLC4A1 | XM_011525130.2 | c.1972G>C | p.Glu658Gln | missense_variant | 16/18 | XP_011523432.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC4A1 | ENST00000262418.12 | c.1972G>C | p.Glu658Gln | missense_variant | 16/20 | 1 | NM_000342.4 | ENSP00000262418 | P1 | |
SLC4A1 | ENST00000399246.3 | c.874G>C | p.Glu292Gln | missense_variant | 11/15 | 5 | ENSP00000382190 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251322Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135874
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461800Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 727202
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Oct 16, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at