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NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 2017
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:
RCV000624107.3

Allele description [Variation Report for NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr)]

NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr)

Gene:
CCN6:cellular communication network factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr)
HGVS:
  • NC_000006.12:g.112069565G>A
  • NG_011748.1:g.20491G>A
  • NM_003880.4:c.1010G>A
  • NM_198239.2:c.1010G>AMANE SELECT
  • NP_003871.1:p.Cys337Tyr
  • NP_003871.1:p.Cys337Tyr
  • NP_937882.2:p.Cys337Tyr
  • NC_000006.11:g.112390768G>A
  • NM_003880.3:c.1010G>A
  • NM_198239.2:c.1010G>A
  • NR_125353.2:n.1328G>A
  • NR_125354.3:n.1155G>A
Protein change:
C337Y
Links:
dbSNP: rs781986930
NCBI 1000 Genomes Browser:
rs781986930
Molecular consequence:
  • NM_003880.4:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198239.2:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_125353.2:n.1328G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_125354.3:n.1155G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000742769Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Jul 25, 2017) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asian/Indiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

Dalal A, Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke SR, Bidchol AM, Rao AP, Nampoothiri S, Kutsche K, Girisha KM.

Am J Med Genet A. 2012 Nov;158A(11):2820-8. doi: 10.1002/ajmg.a.35620. Epub 2012 Sep 17.

PubMed [citation]
PMID:
22987568

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, et al.

Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18. No abstract available.

PubMed [citation]
PMID:
25988854
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000742769.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian/Indian1not providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024