NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp) AND Skeletal dysplasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 15, 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:: RCV000584780.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp)]

NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp)

Gene:

COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.11

Genomic location:

Preferred name:

NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp)

HGVS:

NC_000012.12:g.47980597C>T
NG_008072.1:g.28906G>A
NM_001844.5:c.2582G>AMANE SELECT
NM_033150.3:c.2375G>A
NP_001835.3:p.Gly861Asp
NP_149162.2:p.Gly792Asp
NC_000012.11:g.48374380C>T
NM_001844.4:c.2582G>A

Protein change:

G792D

Links:

dbSNP: rs1209546147

NCBI 1000 Genomes Browser:

rs1209546147

Molecular consequence:

NM_001844.5:c.2582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033150.3:c.2375G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Skeletal dysplasia
Synonyms:: Primary bone dysplasia
Identifiers:: MONDO: MONDO:0018230; MedGen: C0410528; Human Phenotype Ontology: HP:0002652

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692551	Center for Personalized Medicine, Children's Hospital Los Angeles	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 15, 2016)	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

SCV000692551

Center for Personalized Medicine, Children's Hospital Los Angeles

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 15, 2016)

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
Hispanic,unspecified	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000692551.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic,unspecified	not provided	not provided	not provided	clinical testing (GTR000552474.2)	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	validation	(GTR000552474.2)	not provided	not provided	not provided	not provided

Last Updated: Sep 24, 2022

ClinVar

Relating variation to medicine