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NM_080680.3(COL11A2):c.1773+8T>A AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 16, 2019
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:
RCV001257367.1

Allele description [Variation Report for NM_080680.3(COL11A2):c.1773+8T>A]

NM_080680.3(COL11A2):c.1773+8T>A

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.1773+8T>A
HGVS:
  • NC_000006.12:g.33178427A>T
  • NG_011589.1:g.19042T>A
  • NM_080679.3:c.1452+8T>A
  • NM_080680.3:c.1773+8T>AMANE SELECT
  • NM_080681.3:c.1515+8T>A
  • NC_000006.11:g.33146204A>T
  • NM_080680.2:c.1773+8T>A
Links:
dbSNP: rs1771229712
NCBI 1000 Genomes Browser:
rs1771229712
Molecular consequence:
  • NM_080679.3:c.1452+8T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080680.3:c.1773+8T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080681.3:c.1515+8T>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Heart, malformation of
Identifiers:
MONDO: MONDO:0009327; MeSH: D006330; MedGen: CN130023; OMIM: 140500; OMIM: 234750
Name:
Thickened nuchal skin fold
Identifiers:
MedGen: C1836940; Human Phenotype Ontology: HP:0000474
Name:
Cystic hygroma
Identifiers:
MONDO: MONDO:0009761; MedGen: C0206620; Human Phenotype Ontology: HP:0000476
Name:
Short long bone
Synonyms:
short long bones
Identifiers:
MedGen: C1854912; Human Phenotype Ontology: HP:0003026

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001433893Center for Reproductive Medicine, Peking University Third Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 16, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH.

Am J Med Genet A. 2012 Feb;158A(2):309-14. doi: 10.1002/ajmg.a.34406. Epub 2012 Jan 13.

PubMed [citation]
PMID:
22246659
PMCID:
PMC3264686

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
See all PubMed Citations (3)

Details of each submission

From Center for Reproductive Medicine, Peking University Third Hospital, SCV001433893.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 21, 2023