NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs) AND Autosomal recessive nonsyndromic hearing loss 77

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 16, 2016
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:: RCV000225070.1

Allele description [Variation Report for NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs)]

NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs)

Gene:

LOXHD1:lipoxygenase homology PLAT domains 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

18q21.1

Genomic location:

Preferred name:

NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs)

HGVS:

NC_000018.10:g.46485122dup
NG_016646.2:g.176913dup
NM_001145472.3:c.2747dup
NM_001145473.3:c.797dup
NM_001173129.2:c.797dup
NM_001308013.2:c.2459dup
NM_001384474.1:c.6080dupMANE SELECT
NM_144612.7:c.5894dup
NP_001138944.1:p.Gly917fs
NP_001138945.1:p.Gly267fs
NP_001166600.1:p.Gly267fs
NP_001294942.1:p.Gly821fs
NP_001371403.1:p.Gly2028fs
NP_653213.6:p.Gly1966fs
NC_000018.9:g.44065085dup
NM_144612.6:c.5894dupG

Protein change:

G1966fs

Links:

dbSNP: rs878853231

NCBI 1000 Genomes Browser:

rs878853231

Molecular consequence:

NM_001145472.3:c.2747dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145473.3:c.797dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001173129.2:c.797dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001308013.2:c.2459dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001384474.1:c.6080dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144612.7:c.5894dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 77
Synonyms:: Deafness, autosomal recessive 77
Identifiers:: MONDO: MONDO:0013119; MedGen: C2746083; Orphanet: 90636; OMIM: 613079

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000281991	Laboratory of Prof. Karen Avraham, Tel Aviv University	no assertion criteria provided	Pathogenic (Feb 16, 2016)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000281991

Laboratory of Prof. Karen Avraham, Tel Aviv University

no assertion criteria provided

Pathogenic
(Feb 16, 2016)

germline

research

Description

NSHL; recessive, DFNB77: SCV000281991

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV000281991.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

Description

Congenital, profound HL

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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