NM_003627.6:c.1485G>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003627.6(SLC43A1):c.1485G>T(p.Gln495His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000184 in 1,613,990 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003627.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC43A1 | NM_003627.6 | c.1485G>T | p.Gln495His | missense_variant | Exon 14 of 15 | ENST00000278426.8 | NP_003618.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC43A1 | ENST00000278426.8 | c.1485G>T | p.Gln495His | missense_variant | Exon 14 of 15 | 1 | NM_003627.6 | ENSP00000278426.3 | ||
SLC43A1 | ENST00000528450.5 | c.1485G>T | p.Gln495His | missense_variant | Exon 14 of 15 | 1 | ENSP00000435673.1 | |||
SLC43A1 | ENST00000525764.5 | c.*37G>T | downstream_gene_variant | 3 | ENSP00000435803.1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000875 AC: 22AN: 251300Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135850
GnomAD4 exome AF: 0.000196 AC: 287AN: 1461772Hom.: 0 Cov.: 31 AF XY: 0.000180 AC XY: 131AN XY: 727192
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1485G>T (p.Q495H) alteration is located in exon 14 (coding exon 13) of the SLC43A1 gene. This alteration results from a G to T substitution at nucleotide position 1485, causing the glutamine (Q) at amino acid position 495 to be replaced by a histidine (H). 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