rs774765029
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000553.6(WRN):āc.2665C>Gā(p.Arg889Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,460,688 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R889Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_000553.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WRN | NM_000553.6 | c.2665C>G | p.Arg889Gly | missense_variant | 22/35 | ENST00000298139.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WRN | ENST00000298139.7 | c.2665C>G | p.Arg889Gly | missense_variant | 22/35 | 1 | NM_000553.6 | P1 | |
WRN | ENST00000521620.5 | n.1298C>G | non_coding_transcript_exon_variant | 10/23 | 1 | ||||
WRN | ENST00000520169.1 | n.504C>G | non_coding_transcript_exon_variant | 2/3 | 3 | ||||
WRN | ENST00000650667.1 | c.*2279C>G | 3_prime_UTR_variant, NMD_transcript_variant | 21/34 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460688Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726678
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.