NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) AND Ehlers-Danlos syndrome, periodontal type 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 28, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000417066.3

Allele description [Variation Report for NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)]

NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)

Gene:

C1R:complement C1r [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)

HGVS:

NC_000012.12:g.7088636A>G
NG_062465.1:g.8972T>C
NM_001354346.2:c.1054T>C
NM_001733.7:c.1012T>CMANE SELECT
NP_001341275.1:p.Cys352Arg
NP_001724.4:p.Cys338Arg
LRG_1321t1:c.1012T>C
LRG_1321:g.8972T>C
LRG_1321p1:p.Cys338Arg
NC_000012.11:g.7241232A>G
NM_001733.4:c.1012T>C
NM_001733.6:c.1012T>C

Protein change:

C338R

Links:

dbSNP: rs1057519577

NCBI 1000 Genomes Browser:

rs1057519577

Molecular consequence:

NM_001354346.2:c.1054T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001733.7:c.1012T>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
SCV000494608	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]
SCV004099186	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 28, 2023)	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

SCV000494608

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]

SCV004099186

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 28, 2023)

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, 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

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 Institute of Human Genetics, Medical University Innsbruck, SCV000494608.1

#	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

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV004099186.1

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

Description

PS3 PM2 PM1 PS4_Supporting PP3 Path

#	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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