NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) AND Joubert syndrome 9

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 18, 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:: RCV000194720.9

Allele description [Variation Report for NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)]

NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)

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.2683C>T (p.Gln895Ter)

HGVS:

NC_000004.12:g.15557361C>T
NG_013035.1:g.92496C>T
NM_001080522.2:c.2683C>T
NM_001378615.1:c.2683C>TMANE SELECT
NM_001378617.1:c.2536C>T
NP_001073991.2:p.Gln895Ter
NP_001365544.1:p.Gln895Ter
NP_001365546.1:p.Gln846Ter
LRG_697t1:c.2683C>T
LRG_697:g.92496C>T
LRG_697p1:p.Gln895Ter
NC_000004.11:g.15558984C>T

Protein change:

Q846*

Links:

dbSNP: rs764719093

NCBI 1000 Genomes Browser:

rs764719093

Molecular consequence:

NM_001080522.2:c.2683C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001378615.1:c.2683C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001378617.1:c.2536C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000246899	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Mar 4, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000746693	Genomic Research Center, Shahid Beheshti University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 18, 2017)	inherited	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000246899

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(Mar 4, 2014)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000746693

Genomic Research Center, Shahid Beheshti University of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 18, 2017)

inherited

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee.

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000246899.1

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

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

From Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000746693.2

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

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

Last Updated: Nov 24, 2024

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