NM_004004.6(GJB2):c.488T>C (p.Met163Thr) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000735348.4

Allele description [Variation Report for NM_004004.6(GJB2):c.488T>C (p.Met163Thr)]

NM_004004.6(GJB2):c.488T>C (p.Met163Thr)

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.488T>C (p.Met163Thr)

HGVS:

NC_000013.11:g.20189094A>G
NG_008358.1:g.8882T>C
NM_004004.6:c.488T>CMANE SELECT
NP_003995.2:p.Met163Thr
LRG_1350t1:c.488T>C
LRG_1350:g.8882T>C
LRG_1350p1:p.Met163Thr
NC_000013.10:g.20763233A>G
NM_004004.5:c.488T>C
NM_004004.6(GJB2):c.488T>CMANE SELECT
p.Met163Thr

Protein change:

M163T

Links:

dbSNP: rs1273330603

NCBI 1000 Genomes Browser:

rs1273330603

Molecular consequence:

NM_004004.6:c.488T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pulmonary arterial hypertension
Identifiers:: MONDO: MONDO:0015924; MeSH: D000081029; MedGen: C2973725; Orphanet: 182090; Human Phenotype Ontology: HP:0002092

Name:: Respiratory distress
Identifiers:: MedGen: C0476273; Human Phenotype Ontology: HP:0002098

Name:: Neonatal respiratory distress
Identifiers:: MedGen: C4281993; Human Phenotype Ontology: HP:0002643

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000854502	Center for Personalized Medicine, Children's Hospital Los Angeles	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	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

SCV000854502

Center for Personalized Medicine, Children's Hospital Los Angeles

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

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	germline	yes	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 Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854502.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000552474.2)	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	discovery	(GTR000552474.2)	not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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