NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) AND Connective tissue disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 1, 2018
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:: RCV000680464.2

Allele description [Variation Report for NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)]

NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)

Gene:

COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

Preferred name:

NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)

HGVS:

NC_000006.12:g.33164337C>T
NG_011589.1:g.33132G>A
NM_080679.3:c.4679G>A
NM_080680.3:c.5000G>AMANE SELECT
NM_080681.3:c.4742G>A
NP_542410.2:p.Arg1560His
NP_542411.2:p.Arg1667His
NP_542411.2:p.Arg1667His
NP_542412.2:p.Arg1581His
NC_000006.11:g.33132114C>T
NM_080680.2:c.5000G>A
p.(Arg1667His)

Protein change:

R1560H

Links:

dbSNP: rs146555195

NCBI 1000 Genomes Browser:

rs146555195

Molecular consequence:

NM_080679.3:c.4679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_080680.3:c.5000G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_080681.3:c.4742G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Connective tissue disorder
Synonyms:: Connective tissue disease
Identifiers:: MONDO: MONDO:0003900; MedGen: C0009782

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000807839	Center for Human Genetics, Inc, Center for Human Genetics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jun 1, 2018)	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

SCV000807839

Center for Human Genetics, Inc, Center for Human Genetics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jun 1, 2018)

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

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

Details of each submission

From Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000807839.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Oct 20, 2024

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