chr19-17486775-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198580.3(SLC27A1):āc.380C>Gā(p.Pro127Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000011 in 1,452,526 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_198580.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC27A1 | NM_198580.3 | c.380C>G | p.Pro127Arg | missense_variant | 2/12 | ENST00000252595.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC27A1 | ENST00000252595.12 | c.380C>G | p.Pro127Arg | missense_variant | 2/12 | 1 | NM_198580.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000129 AC: 3AN: 232710Hom.: 0 AF XY: 0.0000236 AC XY: 3AN XY: 126934
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1452526Hom.: 0 Cov.: 33 AF XY: 0.00000970 AC XY: 7AN XY: 721728
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at