10-86451987-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015045.5(WAPL):c.3094G>A(p.Ala1032Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015045.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WAPL | NM_015045.5 | c.3094G>A | p.Ala1032Thr | missense_variant | Exon 15 of 19 | ENST00000298767.10 | NP_055860.1 | |
WAPL | NM_001318328.2 | c.3076G>A | p.Ala1026Thr | missense_variant | Exon 15 of 19 | NP_001305257.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3094G>A (p.A1032T) alteration is located in exon 15 (coding exon 14) of the WAPL gene. This alteration results from a G to A substitution at nucleotide position 3094, causing the alanine (A) at amino acid position 1032 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.