NM_004004.6(GJB2):c.*1291_*1294del AND Ichthyosis, hystrix-like, with hearing loss

NM_004004.6(GJB2):c.1291_1294del AND Ichthyosis, hystrix-like, with hearing loss

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000354187.5

Allele description [Variation Report for NM_004004.6(GJB2):c.1291_1294del]

NM_004004.6(GJB2):c.1291_1294del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.*1291_*1294del

HGVS:

NC_000013.11:g.20187610_20187613del
NG_008358.1:g.10366_10369del
NM_004004.6:c.*1291_*1294delMANE SELECT
LRG_1350t1:c.*1291_*1294del
LRG_1350:g.10366_10369del
NC_000013.10:g.20761749_20761752del
NM_004004.5:c.*1291_*1294delAGTA

Links:

dbSNP: rs886050025

NCBI 1000 Genomes Browser:

rs886050025

Molecular consequence:

NM_004004.6:c.*1291_*1294del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

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

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nagB [Borreliella bavariensis PBi]
nagB [Borreliella bavariensis PBi]
Gene ID:45160945

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000382872	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000382872

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000382872.2

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

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

Last Updated: Oct 26, 2024

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