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NM_020435.3(GJC2):c.143C>T (p.Ser48Leu)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 3, 2015)
Last evaluated:
Apr 1, 2011
Accession:
VCV000002079.1
Variation ID:
2079
Description:
single nucleotide variant
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NM_020435.3(GJC2):c.143C>T (p.Ser48Leu)

Allele ID
17118
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q42.13
Genomic location
1: 228157901 (GRCh38) GRCh38 UCSC
1: 228345602 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.228157901C>T
NC_000001.10:g.228345602C>T
NM_020435.3:c.143C>T NP_065168.2:p.Ser48Leu missense
... more HGVS
Protein change
S48L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: Q5T442#VAR_063877
OMIM: 608803.0009
dbSNP: rs267606847
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Apr 1, 2011 RCV000002160.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJC2 - - GRCh38
GRCh37
54 85

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 01, 2011)
no assertion criteria provided
Method: literature only
LYMPHATIC MALFORMATION 3
Allele origin: germline
OMIM
Accession: SCV000022318.4
Submitted: (Aug 03, 2015)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. Ostergaard P Journal of medical genetics 2011 PMID: 21266381
GJC2 missense mutations cause human lymphedema. Ferrell RE American journal of human genetics 2010 PMID: 20537300

Record last updated Jun 17, 2019