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NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) AND Joubert syndrome 3

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002093.6

Allele description [Variation Report for NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)]

NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)

Gene:
AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)
HGVS:
  • NC_000006.12:g.135431212_135431213insA
  • NG_008643.1:g.71553_71554insT
  • NG_008643.2:g.71553_71554insT
  • NM_001134830.2:c.2368_2369insT
  • NM_001134831.2:c.2368_2369insTMANE SELECT
  • NM_001134832.2:c.2368_2369insT
  • NM_001350503.2:c.2368_2369insT
  • NM_001350504.2:c.2368_2369insT
  • NM_017651.5:c.2368_2369insT
  • NP_001128302.1:p.Asn790fs
  • NP_001128303.1:p.Asn790fs
  • NP_001128304.1:p.Asn790fs
  • NP_001337432.1:p.Asn790fs
  • NP_001337433.1:p.Asn790fs
  • NP_060121.3:p.Asn790fs
  • NP_060121.3:p.Asn790fs
  • NC_000006.11:g.135752350_135752351insA
  • NM_017651.4:c.2368_2369insT
  • NP_060121.3:p.Asn790fs
Protein change:
N790fs
Links:
OMIM: 608894.0007; dbSNP: rs387906270
NCBI 1000 Genomes Browser:
rs387906270
Molecular consequence:
  • NM_001134830.2:c.2368_2369insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001134831.2:c.2368_2369insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001134832.2:c.2368_2369insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350503.2:c.2368_2369insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350504.2:c.2368_2369insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017651.5:c.2368_2369insT - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022251OMIMno assertion criteria providedPathogenic
(Jan 1, 2006)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F.

Pediatr Nephrol. 2006 Jan;21(1):32-5. Epub 2005 Oct 21.

PubMed [citation]
PMID:
16240161

Details of each submission

From OMIM, SCV000022251.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 Pakistani brothers with Joubert syndrome-3 (JBTS3; 608629), born of consanguineous parents, Utsch et al. (2006) identified a homozygous 1-bp insertion (2369insT) in exon 16 of the AHI1 gene, resulting in a frameshift and premature termination. Both boys had cerebellar ataxia, developmental delay, nystagmus, oculomotor apraxia. One developed end-stage renal failure by age 16 years due to nephronophthisis, thus expanding the clinical phenotype.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 24, 2022

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