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NC_000001.11:g.228149860A>G AND Spastic paraplegia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 17, 2022
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:
RCV000633051.14

Allele description [Variation Report for NC_000001.11:g.228149860A>G]

NC_000001.11:g.228149860A>G

Gene:
GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NC_000001.11:g.228149860A>G
Other names:
167G>A; -7899A>G
HGVS:
  • NC_000001.11:g.228149860A>G
  • NG_011838.1:g.5009A>G
  • NM_020435.3:c.-167A>G
  • NC_000001.10:g.228337561A>G
Note:
NCBI staff reviewed the sequence information reported in PubMed 20695017 Fig. 2C to determine the location of this variant on the current reference sequence.
Nucleotide change:
-167A-G
Links:
OMIM: 608803.0011; dbSNP: rs587776888
NCBI 1000 Genomes Browser:
rs587776888

Condition(s)

Name:
Spastic paraplegia
Identifiers:
MedGen: C0037772; Human Phenotype Ontology: HP:0001258

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000754263Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 17, 2022) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A.

Mol Genet Metab. 2014 Mar;111(3):393-398. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16. Erratum in: Mol Genet Metab. 2016 Nov;119(3):293. doi: 10.1016/j.ymgme.2016.06.011.

PubMed [citation]
PMID:
24374284
PMCID:
PMC4183365

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K.

Ann Neurol. 2010 Aug;68(2):250-4. doi: 10.1002/ana.22022.

PubMed [citation]
PMID:
20695017
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000754263.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects GJC2 function (PMID: 20695017, 21246605, 24374284). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 30759). This variant has been observed in individual(s) with Pelizaeus–Merzbacher-like disease (PMID: 20695017, 21246605, 21959080, 23142375). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the GJC2 gene. It does not change the encoded amino acid sequence of the GJC2 protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024