U.S. flag

An official website of the United States government

NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) AND Type II Collagenopathies

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2023
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:
RCV003403225.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)]

NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)

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.905C>T (p.Ala302Val)
HGVS:
  • NC_000012.12:g.47993828G>A
  • NG_008072.1:g.15675C>T
  • NM_001844.5:c.905C>TMANE SELECT
  • NM_033150.3:c.698C>T
  • NP_001835.3:p.Ala302Val
  • NP_149162.2:p.Ala233Val
  • NC_000012.11:g.48387611G>A
  • NM_001844.4:c.905C>T
Protein change:
A233V
Links:
dbSNP: rs1555168505
NCBI 1000 Genomes Browser:
rs1555168505
Molecular consequence:
  • NM_001844.5:c.905C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.698C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Type II Collagenopathies
Identifiers:
MedGen: CN043672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004123064Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 1, 2023) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand, SCV004123064.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024