rs281865547
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP5_Moderate
The NM_001143992.2(WRAP53):c.492C>A(p.Phe164Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000137 in 1,461,876 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely pathogenic (★).
Frequency
Consequence
NM_001143992.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WRAP53 | NM_001143992.2 | c.492C>A | p.Phe164Leu | missense_variant | Exon 3 of 11 | ENST00000396463.7 | NP_001137464.1 | |
WRAP53 | NM_001143990.2 | c.492C>A | p.Phe164Leu | missense_variant | Exon 3 of 11 | NP_001137462.1 | ||
WRAP53 | NM_001143991.2 | c.492C>A | p.Phe164Leu | missense_variant | Exon 3 of 11 | NP_001137463.1 | ||
WRAP53 | NM_018081.2 | c.492C>A | p.Phe164Leu | missense_variant | Exon 2 of 10 | NP_060551.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461876Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 727242
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Dyskeratosis congenita, autosomal recessive 3 Pathogenic:1Other:1
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not provided Pathogenic:1
Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21205863) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at