chr9-128343145-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005094.4(SLC27A4):c.13G>T(p.Ala5Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,486 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as not provided (no stars).
Frequency
Consequence
NM_005094.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC27A4 | NM_005094.4 | c.13G>T | p.Ala5Ser | missense_variant | 2/13 | ENST00000300456.5 | |
SLC27A4 | XM_047422664.1 | c.46G>T | p.Ala16Ser | missense_variant | 2/13 | ||
SLC27A4 | XM_017014222.2 | c.13G>T | p.Ala5Ser | missense_variant | 3/14 | ||
SLC27A4 | XM_024447391.2 | c.13G>T | p.Ala5Ser | missense_variant | 3/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC27A4 | ENST00000300456.5 | c.13G>T | p.Ala5Ser | missense_variant | 2/13 | 1 | NM_005094.4 | P1 | |
SLC27A4 | ENST00000372870.5 | c.95G>T | p.Ser32Ile | missense_variant | 2/6 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461486Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727062
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Other:1
not provided, no classification provided | literature only | Laboratory for Molecular Psychiatry, RIKEN | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at