NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) AND Joubert syndrome 3

Clinical significance:Pathogenic (Last evaluated: Sep 21, 2011)

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:
RCV000023739.3

Allele description [Variation Report for NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)]

NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)

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.985C>T (p.Arg329Ter)
HGVS:
  • NC_000006.12:g.135457660G>A
  • NG_008643.2:g.45106C>T
  • NM_001134830.2:c.985C>T
  • NM_001134831.2:c.985C>TMANE SELECT
  • NM_001134832.2:c.985C>T
  • NM_001350503.2:c.985C>T
  • NM_001350504.2:c.985C>T
  • NM_017651.5:c.985C>T
  • NP_001128302.1:p.Arg329Ter
  • NP_001128303.1:p.Arg329Ter
  • NP_001128304.1:p.Arg329Ter
  • NP_001337432.1:p.Arg329Ter
  • NP_001337433.1:p.Arg329Ter
  • NP_060121.3:p.Arg329Ter
  • NP_060121.3:p.Arg329Ter
  • NC_000006.11:g.135778798G>A
  • NM_001134831.1:c.985C>T
  • NM_017651.4:c.985C>T
Protein change:
R329*; ARG329TER
Links:
OMIM: 608894.0008; dbSNP: rs201391050
NCBI 1000 Genomes Browser:
rs201391050
Molecular consequence:
  • NM_001134830.2:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134831.2:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134832.2:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350503.2:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350504.2:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017651.5:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000045030OMIMno assertion criteria providedPathogenic
(Sep 21, 2011)
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

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, PĆ¼ttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, et al.

Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.

PubMed [citation]
PMID:
21937992

Details of each submission

From OMIM, SCV000045030.3

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

Description

In a consanguineous family (8500306) in which 3 of 5 children had Joubert syndrome-3 (JBTS3; 608629), characterized by moderate mental retardation, autism spectrum disorder, ataxia, and cerebellar atrophy, Najmabadi et al. (2011) identified a homozygous G-to-A transition at genomic coordinate chr6:135820491 (NCBI36), resulting in an arg329-to-stop (R329X) substitution.

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

Last Updated: Dec 4, 2021

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