20-49880945-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_015266.3(SLC9A8):c.1180G>A(p.Ala394Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000806 in 1,613,220 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 (★).
Frequency
Consequence
NM_015266.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC9A8 | ENST00000361573.3 | c.1180G>A | p.Ala394Thr | missense_variant | Exon 13 of 16 | 1 | NM_015266.3 | ENSP00000354966.2 | ||
SLC9A8 | ENST00000417961.5 | c.1228G>A | p.Ala410Thr | missense_variant | Exon 13 of 16 | 2 | ENSP00000416418.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251476Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135906
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461006Hom.: 0 Cov.: 30 AF XY: 0.0000151 AC XY: 11AN XY: 726890
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1180G>A (p.A394T) alteration is located in exon 13 (coding exon 13) of the SLC9A8 gene. This alteration results from a G to A substitution at nucleotide position 1180, causing the alanine (A) at amino acid position 394 to be replaced by a threonine (T). 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