MSRB3
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MSRB3 (HGNC:27375) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
methionine sulfoxide reductase B3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB74
Alias symbols
FLJ36866, DKFZp686C1178
%HI
15.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.08(Read more about gnomAD pLI score)
LOEUF
0.96(Read more about gnomAD LOEUF score)
Cytoband
12q14.3
Genomic Coordinates
GRCh37/hg19: chr12:65672463-65860687 NCBI Ensembl UCSC
GRCh38/hg38: chr12:65278683-65466907 NCBI Ensembl UCSC
MANE Select Transcript
NM_001031679.3 ENST00000308259.10 (Read more about MANE Select)
Function
Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing. {ECO:0000269|PubMed:14699060, ECO:0000269|PubMed:21185009}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10315
ClinGen Curation ID:
CCID:007487
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/23/2021

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
One homozygous nonsense variant has been reported in the MSRB3 gene in a proband with autosomal recessive nonsyndromic deafness (Ahmed et al. 2011 PMID21185009). The overall evidence that MSRB3, when altered, causes autosomal recessive nonsyndromic hearing loss has been Expert reviewed as Moderate by the ClinGen Hearing Loss Gene Curation Working Group in 11/2017. Based on the lack of probands segregating with autosomal dominant phenotypes and loss of function variants in the MSRB3 gene, the haploinsufficiency score is 30:Gene associated with autosomal recessive phenotype.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)