rs781741859
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000553.6(WRN):c.715A>C(p.Ile239Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,453,354 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I239V) has been classified as Uncertain significance.
Frequency
Consequence
NM_000553.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WRN | NM_000553.6 | c.715A>C | p.Ile239Leu | missense_variant | 7/35 | ENST00000298139.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WRN | ENST00000298139.7 | c.715A>C | p.Ile239Leu | missense_variant | 7/35 | 1 | NM_000553.6 | P1 | |
WRN | ENST00000651642.1 | c.10A>C | p.Ile4Leu | missense_variant | 1/4 | ||||
WRN | ENST00000650667.1 | c.*329A>C | 3_prime_UTR_variant, NMD_transcript_variant | 6/34 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000809 AC: 2AN: 247106Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133590
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1453354Hom.: 0 Cov.: 29 AF XY: 0.00000277 AC XY: 2AN XY: 723146
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at