rs16891982
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting
The NM_016180(SLC45A2):c.1122G>T(p.Leu374Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 152080 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Benignin ClinVar.
Frequency
Consequence
NM_016180 missense
Scores
Clinical Significance
Conservation
Links
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC45A2 | NM_016180.5 | c.1122G>T | p.Leu374Phe | missense_variant | 5/7 | ENST00000296589.9 | |
SLC45A2 | NM_001012509.4 | c.1122G>T | p.Leu374Phe | missense_variant | 5/6 | ||
SLC45A2 | XM_047417259.1 | c.882G>T | p.Leu294Phe | missense_variant | 5/7 | ||
SLC45A2 | NM_001297417.4 | c.*64G>T | 3_prime_UTR_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC45A2 | ENST00000296589.9 | c.1122G>T | p.Leu374Phe | missense_variant | 5/7 | 1 | NM_016180.5 | P1 | |
SLC45A2 | ENST00000382102.7 | c.1122G>T | p.Leu374Phe | missense_variant | 5/6 | 1 | |||
SLC45A2 | ENST00000509381.1 | c.*64G>T | 3_prime_UTR_variant | 4/4 | 1 | ||||
SLC45A2 | ENST00000510600.1 | c.597G>T | p.Leu199Phe | missense_variant | 4/5 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152080Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461858Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 727234
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at