NM_012478.4:c.487A>C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012478.4(WBP2):c.487A>C(p.Met163Leu) 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. 15/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as no classifications from unflagged records (no stars).
Frequency
Consequence
NM_012478.4 missense
Scores
Clinical Significance
Conservation
Publications
- hearing loss, autosomal recessive 107Inheritance: AR, Unknown Classification: MODERATE, LIMITED Submitted by: PanelApp Australia, Labcorp Genetics (formerly Invitae)
- hearing loss, autosomal recessiveInheritance: AR Classification: SUPPORTIVE, LIMITED Submitted by: ClinGen, Orphanet
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WBP2 | NM_012478.4 | c.487A>C | p.Met163Leu | missense_variant | Exon 5 of 8 | ENST00000254806.8 | NP_036610.2 | |
WBP2 | NM_001348170.1 | c.487A>C | p.Met163Leu | missense_variant | Exon 6 of 9 | NP_001335099.1 | ||
WBP2 | XM_047435712.1 | c.421A>C | p.Met141Leu | missense_variant | Exon 5 of 8 | XP_047291668.1 | ||
WBP2 | NM_001330499.2 | c.398-232A>C | intron_variant | Intron 4 of 6 | NP_001317428.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Hearing loss, autosomal recessive 107 Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at