rs146547322
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004174.4(SLC9A3):c.1814G>T(p.Arg605Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R605Q) has been classified as Likely benign.
Frequency
Consequence
NM_004174.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC9A3 | NM_004174.4 | c.1814G>T | p.Arg605Leu | missense_variant | 12/17 | ENST00000264938.8 | |
SLC9A3-AS1 | NR_125375.1 | n.679+56C>A | intron_variant, non_coding_transcript_variant | ||||
SLC9A3 | NM_001284351.3 | c.1787G>T | p.Arg596Leu | missense_variant | 12/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC9A3 | ENST00000264938.8 | c.1814G>T | p.Arg605Leu | missense_variant | 12/17 | 1 | NM_004174.4 | P2 | |
SLC9A3-AS1 | ENST00000607286.5 | n.679+56C>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 246780Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134110
GnomAD4 exome Cov.: 35
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at