rs17160349
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000251363.10(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
ENST00000251363.10 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 | P1 |
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