NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) AND not specified

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jun 8, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000175282.5

Allele description [Variation Report for NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)]

NM_001378615.1(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_001378615.1(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
NM_001378615.1:c.2161C>TMANE SELECT
NM_001378617.1:c.2014C>T
NP_001073991.2:p.Pro721Ser
NP_001365544.1:p.Pro721Ser
NP_001365546.1:p.Pro672Ser
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:

P672S

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]
NM_001378615.1:c.2161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378617.1:c.2014C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000226748	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Mar 16, 2015)	germline	clinical testing	Citation Link,
SCV000612685	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely benign (Jun 8, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 19777577, 21068128, 22995991, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000226748

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Mar 16, 2015)

germline

clinical testing

Citation Link,

SCV000612685

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely benign
(Jun 8, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical 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, Gérard 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 Eurofins Ntd Llc (ga), SCV000226748.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From Athena Diagnostics Inc, SCV000612685.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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