chr3-27404955-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001321103.2(SLC4A7):c.1950A>G(p.Ile650Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000699 in 1,431,298 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I650V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001321103.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC4A7 | NM_001321103.2 | c.1950A>G | p.Ile650Met | missense_variant | 14/26 | ENST00000454389.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC4A7 | ENST00000454389.6 | c.1950A>G | p.Ile650Met | missense_variant | 14/26 | 1 | NM_001321103.2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.99e-7 AC: 1AN: 1431298Hom.: 0 Cov.: 29 AF XY: 0.00000141 AC XY: 1AN XY: 711562
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 2022 | The c.1923A>G (p.I641M) alteration is located in exon 14 (coding exon 14) of the SLC4A7 gene. This alteration results from a A to G substitution at nucleotide position 1923, causing the isoleucine (I) at amino acid position 641 to be replaced by a methionine (M). 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.