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NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 11, 2022
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:
RCV002222289.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser)]

NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser)

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.1573G>A (p.Gly525Ser)
HGVS:
  • NC_000012.12:g.47985920C>T
  • NG_008072.1:g.23583G>A
  • NM_001844.5:c.1573G>AMANE SELECT
  • NM_033150.3:c.1366G>A
  • NP_001835.3:p.Gly525Ser
  • NP_149162.2:p.Gly456Ser
  • NC_000012.11:g.48379703C>T
Protein change:
G456S
Links:
dbSNP: rs2136568585
NCBI 1000 Genomes Browser:
rs2136568585
Molecular consequence:
  • NM_001844.5:c.1573G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Achondrogenesis type II (ACG2)
Synonyms:
Achondrogenesis, Langer-Saldino type; Chondrogenesis imperfecta
Identifiers:
MONDO: MONDO:0008702; MedGen: C0220685; Orphanet: 932; OMIM: 200610
Name:
Kniest dysplasia
Identifiers:
MONDO: MONDO:0007987; MedGen: C0265279; Orphanet: 485; OMIM: 156550
Name:
Namaqualand hip dysplasia (OSCDP)
Synonyms:
Osteoarthritis with mild chondrodysplasia; Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Identifiers:
MONDO: MONDO:0011496; MedGen: C0432214; OMIM: 604864
Name:
Spondyloperipheral dysplasia
Synonyms:
Spondyloperipheral dysplasia with short ulna; Spondyloperipheral dysplasia-short ulna syndrome
Identifiers:
MONDO: MONDO:0010078; MedGen: C0796173; OMIM: 271700
Name:
Platyspondylic dysplasia, Torrance type (PLSDT)
Synonyms:
Platyspondylic lethal skeletal dysplasia Torrance type; Lethal short-limbed platyspondylic dwarfism Torrance type; Thanatophoric dysplasia torrance variant
Identifiers:
MONDO: MONDO:0007895; MedGen: C1835437; Orphanet: 85166; OMIM: 151210
Name:
Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)
Synonyms:
Dappled metaphysis syndrome; Strudwick syndrome; SMED Strudwick type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008476; MedGen: C0700635; Orphanet: 93346; OMIM: 184250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002499690Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Apr 11, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical 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 Institute of Human Genetics, University Hospital Muenster, SCV002499690.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG categories: PS3,PM1,PM2,PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedbloodnot provided1not providednot providednot provided

Last Updated: Mar 23, 2024