rs777652108
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003645.4(SLC27A2):c.152C>A(p.Pro51Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,662 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P51L) has been classified as Uncertain significance.
Frequency
Consequence
NM_003645.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC27A2 | ENST00000267842.10 | c.152C>A | p.Pro51Gln | missense_variant | Exon 1 of 10 | 1 | NM_003645.4 | ENSP00000267842.5 | ||
SLC27A2 | ENST00000380902.8 | c.152C>A | p.Pro51Gln | missense_variant | Exon 1 of 9 | 1 | ENSP00000370289.4 | |||
ATP8B4 | ENST00000558829.1 | c.-361G>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 4 | 3 | ENSP00000453539.1 | ||||
ATP8B4 | ENST00000558829.1 | c.-361G>T | 5_prime_UTR_variant | Exon 1 of 4 | 3 | ENSP00000453539.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000418 AC: 1AN: 239518Hom.: 0 AF XY: 0.00000764 AC XY: 1AN XY: 130962
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459662Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 726108
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at