7-151064693-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003040.4(SLC4A2):c.385G>T(p.Asp129Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,424 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003040.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC4A2 | NM_003040.4 | c.385G>T | p.Asp129Tyr | missense_variant | Exon 4 of 23 | ENST00000413384.7 | NP_003031.3 | |
SLC4A2 | NM_001199692.3 | c.385G>T | p.Asp129Tyr | missense_variant | Exon 4 of 23 | NP_001186621.1 | ||
SLC4A2 | NM_001199693.1 | c.358G>T | p.Asp120Tyr | missense_variant | Exon 3 of 22 | NP_001186622.1 | ||
SLC4A2 | NM_001199694.2 | c.343G>T | p.Asp115Tyr | missense_variant | Exon 3 of 22 | NP_001186623.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461424Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 727008
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.385G>T (p.D129Y) alteration is located in exon 4 (coding exon 3) of the SLC4A2 gene. This alteration results from a G to T substitution at nucleotide position 385, causing the aspartic acid (D) at amino acid position 129 to be replaced by a tyrosine (Y). 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
Publications
No publications associated with this variant yet.