NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) AND Joubert syndrome 3

Clinical significance:Uncertain significance (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001157000.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)]

NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)

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.3535G>T (p.Asp1179Tyr)
HGVS:
  • NC_000006.12:g.135290476C>A
  • NG_008643.2:g.212290G>T
  • NM_001134830.2:c.3535G>T
  • NM_001134831.2:c.3535G>TMANE SELECT
  • NM_001350503.2:c.3535G>T
  • NM_001350504.2:c.3486-4829G>T
  • NM_017651.4:c.3535G>T
  • NM_017651.5:c.3535G>T
  • NP_001128302.1:p.Asp1179Tyr
  • NP_001128303.1:p.Asp1179Tyr
  • NP_001337432.1:p.Asp1179Tyr
  • NP_060121.3:p.Asp1179Tyr
  • NP_060121.3:p.Asp1179Tyr
  • NC_000006.11:g.135611614C>A
Protein change:
D1179Y
Links:
dbSNP: rs188583221
NCBI 1000 Genomes Browser:
rs188583221
Molecular consequence:
  • NM_001350504.2:c.3486-4829G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001134830.2:c.3535G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.3535G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.3535G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.4:c.3535G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.3535G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001318542Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 28, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, Ong LC, Cham B, Tan P, Rozen S, Tan EC.

PLoS One. 2014;9(4):e93409. doi: 10.1371/journal.pone.0093409.

PubMed [citation]
PMID:
24690944
PMCID:
PMC3972136

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001318542.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Nov 27, 2021

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