15-50182579-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003645.4(SLC27A2):c.152C>T(p.Pro51Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000416 in 1,611,998 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003645.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
SLC27A2 | ENST00000267842.10 | c.152C>T | p.Pro51Leu | missense_variant | Exon 1 of 10 | 1 | NM_003645.4 | ENSP00000267842.5 | ||
SLC27A2 | ENST00000380902.8 | c.152C>T | p.Pro51Leu | missense_variant | Exon 1 of 9 | 1 | ENSP00000370289.4 | |||
ATP8B4 | ENST00000558829.1 | c.-361G>A | 5_prime_UTR_variant | Exon 1 of 4 | 3 | ENSP00000453539.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000626 AC: 15AN: 239518Hom.: 1 AF XY: 0.0000840 AC XY: 11AN XY: 130962
GnomAD4 exome AF: 0.0000418 AC: 61AN: 1459662Hom.: 1 Cov.: 35 AF XY: 0.0000620 AC XY: 45AN XY: 726108
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152336Hom.: 0 Cov.: 33 AF XY: 0.0000268 AC XY: 2AN XY: 74488
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.152C>T (p.P51L) alteration is located in exon 1 (coding exon 1) of the SLC27A2 gene. This alteration results from a C to T substitution at nucleotide position 152, causing the proline (P) at amino acid position 51 to be replaced by a leucine (L). 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