9-14722618-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005454.3(CER1):c.55C>T(p.Arg19Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0866 in 1,607,698 control chromosomes in the GnomAD database, including 6,865 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
NM_005454.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CER1 | NM_005454.3 | c.55C>T | p.Arg19Trp | missense_variant | 1/2 | ENST00000380911.4 | |
CER1 | XR_001746419.2 | n.116C>T | non_coding_transcript_exon_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CER1 | ENST00000380911.4 | c.55C>T | p.Arg19Trp | missense_variant | 1/2 | 1 | NM_005454.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0927 AC: 14105AN: 152098Hom.: 707 Cov.: 32
GnomAD3 exomes AF: 0.101 AC: 24966AN: 246786Hom.: 1607 AF XY: 0.101 AC XY: 13486AN XY: 133748
GnomAD4 exome AF: 0.0859 AC: 125097AN: 1455482Hom.: 6154 Cov.: 33 AF XY: 0.0874 AC XY: 63296AN XY: 724308
GnomAD4 genome AF: 0.0928 AC: 14133AN: 152216Hom.: 711 Cov.: 32 AF XY: 0.0961 AC XY: 7155AN XY: 74418
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at