NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs) AND Autosomal recessive nonsyndromic hearing loss 67

Germline classification:: Pathogenic (1 submission)
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:: RCV001823221.1

Allele description [Variation Report for NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs)]

NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs)

Gene:

LHFPL5:LHFPL tetraspan subfamily member 5 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs)

HGVS:

NC_000006.12:g.35814595_35814605dup
NG_012184.3:g.22390_22400dup
NM_182548.4:c.462_472dupMANE SELECT
NP_872354.1:p.Arg158fs
LRG_1352t1:c.462_472dup
LRG_1352:g.22390_22400dup
LRG_1352p1:p.Arg158fs
NC_000006.11:g.35782372_35782382dup
NG_012184.2:g.14302_14312dup

Protein change:

R158fs

Links:

dbSNP: rs2151070794

NCBI 1000 Genomes Browser:

rs2151070794

Molecular consequence:

NM_182548.4:c.462_472dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001763661	Deafness Molecular Diagnostic Center, Chinese PLA General Hospital	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic	de novo	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001763661

Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic

de novo

case-control

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	case-control

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 Deafness Molecular Diagnostic Center, Chinese PLA General Hospital, SCV001763661.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (1)

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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine