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NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) AND Joubert syndrome

Clinical significance:Pathogenic (Last evaluated: Aug 27, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001058641.5

Allele description [Variation Report for NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)]

NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)

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.1051C>T (p.Arg351Ter)
HGVS:
  • NC_000006.12:g.135457594G>A
  • NG_008643.2:g.45172C>T
  • NM_001134830.2:c.1051C>T
  • NM_001134831.2:c.1051C>TMANE SELECT
  • NM_001134832.2:c.1051C>T
  • NM_001350503.2:c.1051C>T
  • NM_001350504.2:c.1051C>T
  • NM_017651.5:c.1051C>T
  • NP_001128302.1:p.Arg351Ter
  • NP_001128303.1:p.Arg351Ter
  • NP_001128304.1:p.Arg351Ter
  • NP_001337432.1:p.Arg351Ter
  • NP_001337433.1:p.Arg351Ter
  • NP_060121.3:p.Arg351Ter
  • NP_060121.3:p.Arg351Ter
  • NC_000006.11:g.135778732G>A
  • NM_001134831.1:c.1051C>T
  • NM_017651.4:c.1051C>T
Protein change:
R351*; ARG351TER
Links:
OMIM: 608894.0001; dbSNP: rs121434348
NCBI 1000 Genomes Browser:
rs121434348
Molecular consequence:
  • NM_001134830.2:c.1051C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134831.2:c.1051C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134832.2:c.1051C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350503.2:c.1051C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350504.2:c.1051C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017651.5:c.1051C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Joubert syndrome
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Cerebelloparenchymal disorder 4; Cerebellar vermis agenesis; See all synonyms [MedGen]
Identifiers:
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)
OriginMethodCitations
SCV001223227Invitaecriteria provided, single submitter
Pathogenic
(Aug 27, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001223227.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 23, 2022

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