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NM_001384474.1(LOXHD1):c.3061+1G>A AND Hearing loss, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 20, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000627051.2

Allele description [Variation Report for NM_001384474.1(LOXHD1):c.3061+1G>A]

NM_001384474.1(LOXHD1):c.3061+1G>A

Gene:
LOXHD1:lipoxygenase homology PLAT domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.1
Genomic location:
Preferred name:
NM_001384474.1(LOXHD1):c.3061+1G>A
HGVS:
  • NC_000018.10:g.46560082C>T
  • NG_016646.2:g.101952G>A
  • NM_001384474.1:c.3061+1G>AMANE SELECT
  • NM_144612.7:c.3061+1G>A
  • NC_000018.9:g.44140045C>T
  • NM_144612.6:c.3061+1G>A
  • p.(?)
Links:
dbSNP: rs537227442
NCBI 1000 Genomes Browser:
rs537227442
Molecular consequence:
  • NM_001384474.1:c.3061+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_144612.7:c.3061+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hearing loss, autosomal recessive
Synonyms:
Deafness, autosomal recessive; Autosomal recessive nonsyndromic deafness; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019588; MedGen: C1846647; Orphanet: 90635; Orphanet: 90636; OMIM: 607197; OMIM: PS220290

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747758Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 20, 2017) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000747758.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This homozygous variant in a splicing donor site in the LOXHD1 gene was identified in a young female patient with moderate bilateral deafness and developmental delay

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

Last Updated: Oct 13, 2024