U.S. flag

An official website of the United States government

NM_020435.4(GJC2):c.591dup (p.His198fs) AND Pelizaeus-Merzbacher disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 15, 2019
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:
RCV000790418.1

Allele description [Variation Report for NM_020435.4(GJC2):c.591dup (p.His198fs)]

NM_020435.4(GJC2):c.591dup (p.His198fs)

Gene:
GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NM_020435.4(GJC2):c.591dup (p.His198fs)
HGVS:
  • NC_000001.11:g.228158349dup
  • NG_011838.1:g.13498dup
  • NM_020435.4:c.591dupMANE SELECT
  • NP_065168.2:p.His198fs
  • NC_000001.10:g.228346048_228346049insA
  • NC_000001.10:g.228346050dup
  • NM_020435.3:c.591dupA
Protein change:
H198fs
Links:
dbSNP: rs1455411788
NCBI 1000 Genomes Browser:
rs1455411788
Molecular consequence:
  • NM_020435.4:c.591dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Pelizaeus-Merzbacher disease
Synonyms:
LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Sudanophilic leukodystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010714; MedGen: C0205711; Orphanet: 702; OMIM: 312080; Human Phenotype Ontology: HP:0003269

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000925656Ege University Pediatric Genetics, Ege University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 15, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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

Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.

Isik E, Onay H, Atik T, Canda E, Cogulu O, Coker M, Ozkinay F.

Eur J Med Genet. 2019 Oct;62(10):103725. doi: 10.1016/j.ejmg.2019.103725. Epub 2019 Jul 15.

PubMed [citation]
PMID:
31319225

Details of each submission

From Ege University Pediatric Genetics, Ege University, SCV000925656.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024