chr3-27403370-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001321103.2(SLC4A7):āc.2090C>Gā(p.Ser697Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000697 in 1,434,496 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 Uncertain significance (ā ).
Frequency
Consequence
NM_001321103.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC4A7 | NM_001321103.2 | c.2090C>G | p.Ser697Cys | missense_variant | 15/26 | ENST00000454389.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC4A7 | ENST00000454389.6 | c.2090C>G | p.Ser697Cys | missense_variant | 15/26 | 1 | NM_001321103.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.97e-7 AC: 1AN: 1434496Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 713972
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 15, 2021 | The c.2063C>G (p.S688C) alteration is located in exon 15 (coding exon 15) of the SLC4A7 gene. This alteration results from a C to G substitution at nucleotide position 2063, causing the serine (S) at amino acid position 688 to be replaced by a cysteine (C). 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.