rs371602600
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000553.6(WRN):c.1382C>A(p.Thr461Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000553.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WRN | ENST00000298139.7 | c.1382C>A | p.Thr461Lys | missense_variant | Exon 11 of 35 | 1 | NM_000553.6 | ENSP00000298139.5 | ||
WRN | ENST00000651642.1 | c.596C>A | p.Thr199Lys | missense_variant | Exon 4 of 4 | ENSP00000498779.1 | ||||
WRN | ENST00000650667.1 | n.*996C>A | non_coding_transcript_exon_variant | Exon 10 of 34 | ENSP00000498593.1 | |||||
WRN | ENST00000650667.1 | n.*996C>A | 3_prime_UTR_variant | Exon 10 of 34 | ENSP00000498593.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at