NM_001382391.1(CSPP1):c.1697+1G>T AND Joubert syndrome 21

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 22, 2022
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:: RCV000201750.2

Allele description [Variation Report for NM_001382391.1(CSPP1):c.1697+1G>T]

NM_001382391.1(CSPP1):c.1697+1G>T

Gene:

CSPP1:centrosome and spindle pole associated protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.2

Genomic location:

Preferred name:

NM_001382391.1(CSPP1):c.1697+1G>T

HGVS:

NC_000008.11:g.67118822G>T
NG_034100.1:g.59455G>T
NM_001291339.2:c.800+1G>T
NM_001363131.2:c.1616+1G>T
NM_001363132.2:c.1655+1G>T
NM_001363133.2:c.1574+1G>T
NM_001364869.1:c.1763+1G>T
NM_001364870.1:c.1583+1G>T
NM_001382391.1:c.1697+1G>TMANE SELECT
NM_024790.6:c.1682+1G>T
NC_000008.10:g.68031057G>T

Links:

dbSNP: rs863225193

NCBI 1000 Genomes Browser:

rs863225193

Molecular consequence:

NM_001291339.2:c.800+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001363131.2:c.1616+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001363132.2:c.1655+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001363133.2:c.1574+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001364869.1:c.1763+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001364870.1:c.1583+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001382391.1:c.1697+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_024790.6:c.1682+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Joubert syndrome 21 (JBTS21)
Identifiers:: MONDO: MONDO:0014288; MedGen: C3810212; OMIM: 615636

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256405	UW Hindbrain Malformation Research Program, University of Washington See additional submitters University of Washington Center for Mendelian Genomics, University of Washington	criteria provided, single submitter (Bachmann-Gagescu et al. (J Med Genet. 2015))	Pathogenic (Feb 23, 2015)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV002810952	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 22, 2022)	unknown	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

SCV000256405

UW Hindbrain Malformation Research Program, University of Washington

See additional submitters

criteria provided, single submitter

(Bachmann-Gagescu et al. (J Med Genet. 2015))

Pathogenic
(Feb 23, 2015)

unknown

research

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

SCV002810952

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 22, 2022)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, et al.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

PubMed [citation]

PMID:: 26092869
PMCID:: PMC5082428

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 UW Hindbrain Malformation Research Program, University of Washington, SCV000256405.1

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

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

From Fulgent Genetics, Fulgent Genetics, SCV002810952.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 10, 2023

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