NM_001134831.2(AHI1):c.1152-2A>G AND Joubert syndrome 3

Clinical significance:Pathogenic (Last evaluated: Feb 23, 2015)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000201545.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.1152-2A>G]

NM_001134831.2(AHI1):c.1152-2A>G

Gene:

AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.3

Genomic location:

Preferred name:

NM_001134831.2(AHI1):c.1152-2A>G

HGVS:

NC_000006.12:g.135455928T>C
NG_008643.2:g.46838A>G
NM_001134830.2:c.1152-2A>G
NM_001134831.2:c.1152-2A>GMANE SELECT
NM_001134832.2:c.1152-2A>G
NM_001350503.2:c.1152-2A>G
NM_001350504.2:c.1152-2A>G
NM_017651.5:c.1152-2A>G
NC_000006.11:g.135777066T>C
NM_001134831.1:c.1152-2A>G

Links:

dbSNP: rs753085250

NCBI 1000 Genomes Browser:

rs753085250

Molecular consequence:

NM_001134830.2:c.1152-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001134831.2:c.1152-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001134832.2:c.1152-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001350503.2:c.1152-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001350504.2:c.1152-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_017651.5:c.1152-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Joubert syndrome 3 (JBTS3)
Synonyms:: Joubert syndrome with ocular anomalies; AHI1-related Ciliopathy
Identifiers:: MONDO: MONDO:0012078; MedGen: C1837713; Orphanet: 220493; OMIM: 608629

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256251	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]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256251

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]

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
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

Details of each submission

From UW Hindbrain Malformation Research Program, University of Washington, SCV000256251.1

#	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

Last Updated: Jun 10, 2023

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