rs17160349
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_024552.3(CERS4):c.1136G>A(p.Arg379Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.155 in 1,532,672 control chromosomes in the GnomAD database, including 19,096 homozygotes. In-silico tool predicts a benign outcome for this variant. 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 Likely benignin UniProt.
Frequency
Consequence
NM_024552.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CERS4 | NM_024552.3 | c.1136G>A | p.Arg379Gln | missense_variant | 12/12 | ENST00000251363.10 | NP_078828.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CERS4 | ENST00000251363.10 | c.1136G>A | p.Arg379Gln | missense_variant | 12/12 | 1 | NM_024552.3 | ENSP00000251363.5 |
Frequencies
GnomAD3 genomes AF: 0.147 AC: 22336AN: 152194Hom.: 1704 Cov.: 34
GnomAD3 exomes AF: 0.156 AC: 27250AN: 174770Hom.: 2336 AF XY: 0.152 AC XY: 14392AN XY: 94814
GnomAD4 exome AF: 0.156 AC: 215347AN: 1380360Hom.: 17389 Cov.: 35 AF XY: 0.155 AC XY: 105453AN XY: 679634
GnomAD4 genome AF: 0.147 AC: 22342AN: 152312Hom.: 1707 Cov.: 34 AF XY: 0.144 AC XY: 10704AN XY: 74474
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at