rs1065457
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000368167.8(CD1E):āc.317A>Gā(p.Gln106Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.405 in 1,613,352 control chromosomes in the GnomAD database, including 143,697 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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
ENST00000368167.8 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 |
---|---|---|---|---|---|---|---|---|
CD1E | NM_030893.4 | c.317A>G | p.Gln106Arg | missense_variant | 2/6 | ENST00000368167.8 | NP_112155.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD1E | ENST00000368167.8 | c.317A>G | p.Gln106Arg | missense_variant | 2/6 | 1 | NM_030893.4 | ENSP00000357149 | P2 |
Frequencies
GnomAD3 genomes AF: 0.515 AC: 78177AN: 151934Hom.: 23231 Cov.: 32
GnomAD3 exomes AF: 0.445 AC: 110587AN: 248468Hom.: 27037 AF XY: 0.442 AC XY: 59622AN XY: 134854
GnomAD4 exome AF: 0.394 AC: 575075AN: 1461300Hom.: 120420 Cov.: 38 AF XY: 0.397 AC XY: 288784AN XY: 726958
GnomAD4 genome AF: 0.515 AC: 78286AN: 152052Hom.: 23277 Cov.: 32 AF XY: 0.517 AC XY: 38437AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at