NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) AND Agenesis of cerebellar vermis

Clinical significance:Pathogenic (Last evaluated: Mar 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

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

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

AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)
  • 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_017651.4: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
Protein change:
R329*; ARG329TER
OMIM: 608894.0008; dbSNP: rs201391050
NCBI 1000 Genomes Browser:
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_017651.4:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017651.5:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]


Agenesis of cerebellar vermis (JBTS)
CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300; Human Phenotype Ontology: HP:0002335

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001591909Invitaecriteria provided, single submitter
(Mar 19, 2020)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing



DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ.

Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. Epub 2007 Oct 6.

PubMed [citation]

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]
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001591909.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)


This sequence change creates a premature translational stop signal (p.Arg329*) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Joubert syndrome (PMID: 18054307, 21937992). ClinVar contains an entry for this variant (Variation ID: 30760). Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322). For these reasons, this variant has been classified as Pathogenic.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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