chr7-151064227-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000413384.7(SLC4A2):c.77G>A(p.Gly26Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.236 in 1,612,016 control chromosomes in the GnomAD database, including 48,916 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign 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
ENST00000413384.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC4A2 | NM_003040.4 | c.77G>A | p.Gly26Glu | missense_variant | 3/23 | ENST00000413384.7 | NP_003031.3 | |
SLC4A2 | NM_001199692.3 | c.77G>A | p.Gly26Glu | missense_variant | 3/23 | NP_001186621.1 | ||
SLC4A2 | NM_001199693.1 | c.50G>A | p.Gly17Glu | missense_variant | 2/22 | NP_001186622.1 | ||
SLC4A2 | NM_001199694.2 | c.35G>A | p.Gly12Glu | missense_variant | 2/22 | NP_001186623.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC4A2 | ENST00000413384.7 | c.77G>A | p.Gly26Glu | missense_variant | 3/23 | 1 | NM_003040.4 | ENSP00000405600 | P1 |
Frequencies
GnomAD3 genomes AF: 0.222 AC: 33717AN: 151878Hom.: 4272 Cov.: 30
GnomAD3 exomes AF: 0.277 AC: 69428AN: 250750Hom.: 11818 AF XY: 0.264 AC XY: 35894AN XY: 135732
GnomAD4 exome AF: 0.238 AC: 346986AN: 1460020Hom.: 44632 Cov.: 38 AF XY: 0.236 AC XY: 171050AN XY: 726324
GnomAD4 genome AF: 0.222 AC: 33733AN: 151996Hom.: 4284 Cov.: 30 AF XY: 0.227 AC XY: 16851AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at