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NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) AND Familial aplasia of the vermis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 5, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002541620.3

Allele description [Variation Report for NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)]

NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)

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.1828C>T (p.Arg610Ter)
HGVS:
  • NC_000006.12:g.135442666G>A
  • NG_008643.2:g.60100C>T
  • NM_001134830.2:c.1828C>T
  • NM_001134831.2:c.1828C>TMANE SELECT
  • NM_001134832.2:c.1828C>T
  • NM_001350503.2:c.1828C>T
  • NM_001350504.2:c.1828C>T
  • NM_017651.5:c.1828C>T
  • NP_001128302.1:p.Arg610Ter
  • NP_001128303.1:p.Arg610Ter
  • NP_001128304.1:p.Arg610Ter
  • NP_001337432.1:p.Arg610Ter
  • NP_001337433.1:p.Arg610Ter
  • NP_060121.3:p.Arg610Ter
  • NC_000006.11:g.135763804G>A
  • NG_008643.1:g.60100C>T
  • NM_001134830.1:c.1828C>T
  • NM_017651.4:c.1828C>T
Protein change:
R610*
Links:
dbSNP: rs751734985
NCBI 1000 Genomes Browser:
rs751734985
Molecular consequence:
  • NM_001134830.2:c.1828C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134831.2:c.1828C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134832.2:c.1828C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350503.2:c.1828C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350504.2:c.1828C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017651.5:c.1828C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial aplasia of the vermis
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003021589Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 5, 2024) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA.

Nat Genet. 2004 Sep;36(9):1008-13. Epub 2004 Aug 22. Erratum in: Nat Genet. 2004 Oct;36(10):1126.

PubMed [citation]
PMID:
15322546

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, et al.

Ann Neurol. 2006 Mar;59(3):527-34.

PubMed [citation]
PMID:
16453322
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003021589.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change creates a premature translational stop signal (p.Arg610*) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322, 28442542, 29186038). This variant is present in population databases (rs751734985, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 16541367, 28097321). ClinVar contains an entry for this variant (Variation ID: 984718). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 8, 2024