NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jun 8, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000175282.2

Allele description [Variation Report for NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser)]

NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser)

Gene:
CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p15.32
Genomic location:
Preferred name:
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser)
HGVS:
  • NC_000004.12:g.15540994C>T
  • NG_013035.1:g.76129C>T
  • NM_001080522.2:c.2161C>T
  • NP_001073991.2:p.Pro721Ser
  • LRG_697t1:c.2161C>T
  • LRG_697:g.76129C>T
  • LRG_697p1:p.Pro721Ser
  • NC_000004.11:g.15542617C>T
  • Q9P2K1:p.Pro721Ser
  • p.PRO721SER
Protein change:
P721S
Links:
UniProtKB: Q9P2K1#VAR_062804; dbSNP: rs199768782
NCBI 1000 Genomes Browser:
rs199768782
Molecular consequence:
  • NM_001080522.2:c.2161C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226748EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Mar 16, 2015)
germlineclinical testing

Citation Link,

SCV000612685Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Jun 8, 2017)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, GĂ©rard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, et al.

Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116.

PubMed [citation]
PMID:
19777577
PMCID:
PMC2783384

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group..

J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. Erratum in: J Med Genet. 2015 Dec;52(12):866.

PubMed [citation]
PMID:
21068128
PMCID:
PMC3913043
See all PubMed Citations (4)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000226748.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Athena Diagnostics Inc, SCV000612685.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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