NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) AND Ehlers-Danlos syndrome, periodontal type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 23, 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:: RCV000417050.3

Allele description [Variation Report for NM_001733.7(C1R):c.1092G>C (p.Trp364Cys)]

NM_001733.7(C1R):c.1092G>C (p.Trp364Cys)

Gene:

C1R:complement C1r [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

Chr12: 7086404 (on Assembly GRCh38)

Preferred name:

NM_001733.7(C1R):c.1092G>C (p.Trp364Cys)

HGVS:

NC_000012.12:g.7086404C>G
NG_062465.1:g.11204G>C
NM_001354346.2:c.1134G>C
NM_001733.7:c.1092G>CMANE SELECT
NP_001341275.1:p.Trp378Cys
NP_001724.4:p.Trp364Cys
LRG_1321t1:c.1092G>C
LRG_1321:g.11204G>C
LRG_1321p1:p.Trp364Cys
NM_001733.4:c.1092G>C
NM_001733.6:c.1092G>C

Protein change:

W364C

Links:

dbSNP: rs1057519578

Molecular consequence:

NM_001354346.2:c.1134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001733.7:c.1092G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ehlers-Danlos syndrome, periodontal type 1
Identifiers:: MONDO: MONDO:0020684; MedGen: C4551499; Orphanet: 75392; OMIM: 130080

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494610	Institute of Human Genetics, Medical University Innsbruck	criteria provided, single submitter (Submitter's publication)	Pathogenic (Aug 23, 2016)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494610

Institute of Human Genetics, Medical University Innsbruck

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Aug 23, 2016)

germline

research

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	research

Citations

PubMed

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, et al.

Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13.

PubMed [citation]

PMID:: 27745832
PMCID:: PMC5097948

Details of each submission

From Institute of Human Genetics, Medical University Innsbruck, SCV000494610.1

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

Last Updated: Nov 11, 2023

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