U.S. flag

An official website of the United States government

NM_182548.4(LHFPL5):c.649+1del AND Autosomal recessive nonsyndromic hearing loss 67

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2006
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:
RCV000001764.4

Allele description [Variation Report for NM_182548.4(LHFPL5):c.649+1del]

NM_182548.4(LHFPL5):c.649+1del

Gene:
LHFPL5:LHFPL tetraspan subfamily member 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_182548.4(LHFPL5):c.649+1del
HGVS:
  • NC_000006.12:g.35814783del
  • NG_012184.3:g.22578del
  • NM_182548.4:c.649+1delMANE SELECT
  • LRG_1352t1:c.649+1del
  • LRG_1352:g.22578del
  • NC_000006.11:g.35782560del
  • NM_182548.3:c.649+1del
  • NM_182548.4:c.649+1delGMANE SELECT
Note:
ClinGen staff contributed the HGVS expression for this variant.
Links:
OMIM: 609427.0003; dbSNP: rs1581972457
NCBI 1000 Genomes Browser:
rs1581972457
Molecular consequence:
  • NM_182548.4:c.649+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 67
Synonyms:
Deafness, autosomal recessive 67
Identifiers:
MONDO: MONDO:0012460; MedGen: C1853223; Orphanet: 90636; OMIM: 610265

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021920OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2006) 		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

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, et al.

Hum Mutat. 2006 Jul;27(7):633-9.

PubMed [citation]
PMID:
16752389

Details of each submission

From OMIM, SCV000021920.2

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

Description

In a large Turkish consanguineous family, Kalay et al. (2006) found that autosomal recessive nonsyndromic hearing loss (DFNB67; 610265) was associated with homozygosity for a 1-bp deletion in exon 2 of the LHFPL5 gene: 649delG (Glu216ArgfsTer26). Further screening of index patients from 96 Turkish autosomal recessive nonsyndromic hearing loss families and 90 Dutch patients identified 1 additional Turkish patient carrying the 649delG mutation. Haplotype analysis revealed that the mutation was present on the same haplotype in both families.

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

Last Updated: Sep 16, 2024