rs143771120
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000298139.7(WRN):c.4274C>A(p.Thr1425Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,646 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 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. T1425M) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000298139.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WRN | NM_000553.6 | c.4274C>A | p.Thr1425Lys | missense_variant | 35/35 | ENST00000298139.7 | NP_000544.2 | |
WRN | XM_011544639.4 | c.4193C>A | p.Thr1398Lys | missense_variant | 34/34 | XP_011542941.1 | ||
WRN | XM_011544640.2 | c.2675C>A | p.Thr892Lys | missense_variant | 23/23 | XP_011542942.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WRN | ENST00000298139.7 | c.4274C>A | p.Thr1425Lys | missense_variant | 35/35 | 1 | NM_000553.6 | ENSP00000298139 | P1 | |
ENST00000521252.1 | n.181+3615G>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461646Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727118
GnomAD4 genome Cov.: 33
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.