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NM_024915.4(GRHL2):c.1258-1G>A AND Autosomal dominant nonsyndromic hearing loss 28

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000077792.2

Allele description [Variation Report for NM_024915.4(GRHL2):c.1258-1G>A]

NM_024915.4(GRHL2):c.1258-1G>A

Gene:
GRHL2:grainyhead like transcription factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.3
Genomic location:
Preferred name:
NM_024915.4(GRHL2):c.1258-1G>A
HGVS:
  • NC_000008.11:g.101631636G>A
  • NG_011971.2:g.144197G>A
  • NG_011971.3:g.144199G>A
  • NM_001330593.2:c.1210-1G>A
  • NM_024915.4:c.1258-1G>AMANE SELECT
  • NC_000008.10:g.102643864G>A
  • NM_024915.3:c.1258-1G>A
Nucleotide change:
IVS9AS, G-A, -1
Links:
OMIM: 608576.0002; dbSNP: rs398123006
NCBI 1000 Genomes Browser:
rs398123006
Molecular consequence:
  • NM_001330593.2:c.1210-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_024915.4:c.1258-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 28
Synonyms:
Deafness, autosomal dominant 28
Identifiers:
MONDO: MONDO:0012083; MedGen: C1837640; Orphanet: 90635; OMIM: 608641

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000109618OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2013) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Confirmation of GRHL2 as the gene for the DFNA28 locus.

Vona B, Nanda I, Neuner C, Müller T, Haaf T.

Am J Med Genet A. 2013 Aug;161A(8):2060-5. doi: 10.1002/ajmg.a.36017. Epub 2013 Jun 27.

PubMed [citation]
PMID:
23813623
PMCID:
PMC3884766

Details of each submission

From OMIM, SCV000109618.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a large 5-generation family segregating autosomal dominant postlingual hearing loss with a highly variable age of onset and progression (DFNA28; 608641), Vona et al. (2013) identified heterozygosity for a c.1258-1G-A transition in intron 9 of the GRHL2 gene, creating a new 3-prime AG splice site that is shifted by only 1 nucleotide in the 3-prime direction, which causes heterozygous deletion of the first guanine in exon 10 and predicts a premature termination codon in exon 13 (Gly420GlufsTer111). The mutation was present in heterozygosity in the proband's affected mother but was not found in his unaffected father, and it was detected in 4 other family members with hearing loss as well as 2 family members under the age of 44 who had not yet developed hearing loss.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023