NM_001844.5(COL2A1):c.3205G>C (p.Ala1069Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 28, 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:: RCV000455425.4

Allele description [Variation Report for NM_001844.5(COL2A1):c.3205G>C (p.Ala1069Pro)]

NM_001844.5(COL2A1):c.3205G>C (p.Ala1069Pro)

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.3205G>C (p.Ala1069Pro)

HGVS:

NC_000012.12:g.47977388C>G
NG_008072.1:g.32115G>C
NM_001844.5:c.3205G>CMANE SELECT
NM_033150.3:c.2998G>C
NP_001835.3:p.Ala1069Pro
NP_149162.2:p.Ala1000Pro
NC_000012.11:g.48371171C>G
NM_001844.4:c.3205G>C

Protein change:

A1000P

Links:

dbSNP: rs200112269

NCBI 1000 Genomes Browser:

rs200112269

Molecular consequence:

NM_001844.5:c.3205G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033150.3:c.2998G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000538715	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Mar 28, 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

SCV000538715

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Mar 28, 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
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000538715.2

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

Description

Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: Has not been reported previously, but extremely rare variant. C OL2A1 is stronlgy associated with several types of skeletal dysplasias that may present with hip dysplasia. The majority of variants in the gene are missense, a ltering a Glycine residue. This variant may be worth testing in the parents to c heck de novo occurrence.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Dec 24, 2022

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