NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) AND Joubert syndrome 3

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2019)

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:
RCV001252131.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)]

NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)

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.2266G>T (p.Gly756Cys)
HGVS:
  • NC_000006.12:g.135433027C>A
  • NG_008643.2:g.69739G>T
  • NM_001134830.1:c.2266G>T
  • NM_001134830.2:c.2266G>T
  • NM_001134831.2:c.2266G>TMANE SELECT
  • NM_001134832.2:c.2266G>T
  • NM_001350503.2:c.2266G>T
  • NM_001350504.2:c.2266G>T
  • NM_017651.5:c.2266G>T
  • NP_001128302.1:p.Gly756Cys
  • NP_001128302.1:p.Gly756Cys
  • NP_001128303.1:p.Gly756Cys
  • NP_001128304.1:p.Gly756Cys
  • NP_001337432.1:p.Gly756Cys
  • NP_001337433.1:p.Gly756Cys
  • NP_060121.3:p.Gly756Cys
  • NC_000006.11:g.135754165C>A
Protein change:
G756C
Molecular consequence:
  • NM_001134830.1:c.2266G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134830.2:c.2266G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.2266G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.2266G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.2266G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.2266G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.2266G>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
SCV001427881Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lilleno assertion criteria providedLikely pathogenic
(Jan 1, 2019)
uniparentalclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001427881.1

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

Last Updated: Oct 24, 2021

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