NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) AND Joubert syndrome 9

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 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:: RCV001147862.5

Allele description [Variation Report for NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)]

NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)

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.351T>G (p.Ser117Arg)

HGVS:

NC_000004.12:g.15502836T>G
NG_013035.1:g.37971T>G
NM_001080522.2:c.351T>G
NM_001378615.1:c.351T>GMANE SELECT
NM_001378617.1:c.204T>G
NP_001073991.2:p.Ser117Arg
NP_001365544.1:p.Ser117Arg
NP_001365546.1:p.Ser68Arg
LRG_697t1:c.351T>G
LRG_697:g.37971T>G
LRG_697p1:p.Ser117Arg
NC_000004.11:g.15504459T>G
Q9P2K1:p.Ser117Arg

Protein change:

S117R

Links:

UniProtKB: Q9P2K1#VAR_076881; dbSNP: rs186264635

NCBI 1000 Genomes Browser:

rs186264635

Molecular consequence:

NM_001080522.2:c.351T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378615.1:c.351T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378617.1:c.204T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Joubert syndrome 9 (JBTS9)
Identifiers:: MONDO: MONDO:0012849; MedGen: C2676788; Orphanet: 2318; OMIM: 612285

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001308714	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21370303, 22241855 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001308714

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sonographic 'molar tooth' sign in the diagnosis of Joubert syndrome.

Pugash D, Oh T, Godwin K, Robinson AJ, Byrne A, Van Allen MI, Osiovich H.

Ultrasound Obstet Gynecol. 2011 Nov;38(5):598-602. doi: 10.1002/uog.8979.

PubMed [citation]

PMID:: 21370303

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D.

J Med Genet. 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552.

PubMed [citation]

PMID:: 22241855

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001308714.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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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