20-49880936-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015266.3(SLC9A8):c.1171T>G(p.Phe391Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000385 in 1,612,210 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC9A8 | ENST00000361573.3 | c.1171T>G | p.Phe391Val | missense_variant | Exon 13 of 16 | 1 | NM_015266.3 | ENSP00000354966.2 | ||
SLC9A8 | ENST00000417961.5 | c.1219T>G | p.Phe407Val | missense_variant | Exon 13 of 16 | 2 | ENSP00000416418.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152238Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251472Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135910
GnomAD4 exome AF: 0.0000384 AC: 56AN: 1459972Hom.: 0 Cov.: 29 AF XY: 0.0000344 AC XY: 25AN XY: 726446
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1171T>G (p.F391V) alteration is located in exon 13 (coding exon 13) of the SLC9A8 gene. This alteration results from a T to G substitution at nucleotide position 1171, causing the phenylalanine (F) at amino acid position 391 to be replaced by a valine (V). 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