5-1060348-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006598.3(SLC12A7):c.2843G>A(p.Arg948Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000378 in 1,612,332 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006598.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC12A7 | ENST00000264930.10 | c.2843G>A | p.Arg948Gln | missense_variant | Exon 21 of 24 | 1 | NM_006598.3 | ENSP00000264930.5 | ||
SLC12A7 | ENST00000634447.1 | c.2543G>A | p.Arg848Gln | missense_variant | Exon 19 of 23 | 5 | ENSP00000489285.1 | |||
SLC12A7 | ENST00000513223.2 | c.938G>A | p.Arg313Gln | missense_variant | Exon 7 of 8 | 5 | ENSP00000428854.2 | |||
SLC12A7 | ENST00000514994.1 | n.143G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152226Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250850Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135732
GnomAD4 exome AF: 0.0000384 AC: 56AN: 1459988Hom.: 0 Cov.: 31 AF XY: 0.0000317 AC XY: 23AN XY: 726372
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152344Hom.: 0 Cov.: 35 AF XY: 0.0000268 AC XY: 2AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2843G>A (p.R948Q) alteration is located in exon 21 (coding exon 21) of the SLC12A7 gene. This alteration results from a G to A substitution at nucleotide position 2843, causing the arginine (R) at amino acid position 948 to be replaced by a glutamine (Q). 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