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NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala) AND Otospondylomegaepiphyseal dysplasia, autosomal dominant

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 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:
RCV000274611.5

Allele description [Variation Report for NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala)]

NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala)

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.2735T>C (p.Val912Ala)
HGVS:
  • NC_000006.12:g.33173349A>G
  • NG_011589.1:g.24120T>C
  • NM_080679.3:c.2414T>C
  • NM_080680.3:c.2735T>CMANE SELECT
  • NM_080681.3:c.2477T>C
  • NP_542410.2:p.Val805Ala
  • NP_542411.2:p.Val912Ala
  • NP_542411.2:p.Val912Ala
  • NP_542412.2:p.Val826Ala
  • NC_000006.11:g.33141126A>G
  • NM_080680.2:c.2735T>C
Protein change:
V805A
Links:
dbSNP: rs548592690
NCBI 1000 Genomes Browser:
rs548592690
Molecular consequence:
  • NM_080679.3:c.2414T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080680.3:c.2735T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080681.3:c.2477T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA)
Synonyms:
Stickler syndrome, type 3; Stickler syndrome nonocular type; Weissenbacher-Zweymuller syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008490; MedGen: C1848488; Orphanet: 3450; OMIM: 184840

Recent activity

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  • Porphyria, Variegate
    Porphyria, Variegate
    An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of...<br/>Year introduced: 2005
    MeSH
  • Liver Cirrhosis, Biliary
    Liver Cirrhosis, Biliary
    FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEP...<br/>Year introduced: 1978
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000462413Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000462413.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024