NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 8, 2021
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:: RCV002504805.1

Allele description [Variation Report for NM_004004.6(GJB2):c.250G>C (p.Val84Leu)]

NM_004004.6(GJB2):c.250G>C (p.Val84Leu)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.250G>C (p.Val84Leu)

HGVS:

NC_000013.11:g.20189332C>G
NG_008358.1:g.8644G>C
NM_004004.6:c.250G>CMANE SELECT
NP_003995.2:p.Val84Leu
LRG_1350t1:c.250G>C
LRG_1350:g.8644G>C
LRG_1350p1:p.Val84Leu
NC_000013.10:g.20763471C>G
NM_004004.5:c.250G>C
P29033:p.Val84Leu
c.250G>C

Protein change:

V84L; VAL84LEU

Links:

UniProtKB: P29033#VAR_002143; OMIM: 121011.0032; dbSNP: rs104894409

NCBI 1000 Genomes Browser:

rs104894409

Molecular consequence:

NM_004004.6:c.250G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
Synonyms:: Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290

Name:: Mutilating keratoderma (VOWNKL)
Synonyms:: Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; Keratoderma hereditarium mutilans
Identifiers:: MONDO: MONDO:0007422; MedGen: C0265964; Orphanet: 494; OMIM: 124500

Name:: Ichthyosis, hystrix-like, with hearing loss
Synonyms:: HID SYNDROME; Hystrix-like ichthyosis with deafness
Identifiers:: MONDO: MONDO:0011245; MedGen: C1865234; Orphanet: 477; OMIM: 602540

Name:: Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Synonyms:: Keratitis-ichthyosis-deafness syndrome, autosomal dominant; KID syndrome, autosomal dominant; Senter syndrome
Identifiers:: MONDO: MONDO:0007850; MedGen: C0265336; Orphanet: 477; OMIM: 148210

Name:: Palmoplantar keratoderma-deafness syndrome
Synonyms:: Keratoderma palmoplantar deafness; Keratoderma palmoplantar, with deafness; Palmoplantar keratoderma and sensorineural deafness; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007852; MedGen: C1835672; Orphanet: 2202; OMIM: 148350

Name:: Knuckle pads, deafness AND leukonychia syndrome
Synonyms:: Knuckle pads, leuconychia and sensorineural deafness; Bart-Pumphrey syndrome
Identifiers:: MONDO: MONDO:0007866; MedGen: C0266004; Orphanet: 2698; OMIM: 149200

Name:: Autosomal dominant nonsyndromic hearing loss 3A
Synonyms:: Deafness, autosomal dominant 3a
Identifiers:: MONDO: MONDO:0011103; MedGen: C2675750; Orphanet: 90635; OMIM: 601544

Name:: X-linked mixed hearing loss with perilymphatic gusher
Synonyms:: Deafness, X-linked 2; Deafness conductive with stapes fixation; Deafness 3 conductive with stapes fixation; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010576; MedGen: C1844678; Orphanet: 383; OMIM: 304400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002808981	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 8, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002808981

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 8, 2021)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Fulgent Genetics, Fulgent Genetics, SCV002808981.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Oct 8, 2024

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