NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) AND Joubert syndrome 3

Clinical significance:Pathogenic (Last evaluated: Nov 3, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000201537.2

Allele description [Variation Report for NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)]

NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)

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.2173T>C (p.Trp725Arg)
HGVS:
  • NC_000006.12:g.135433120A>G
  • NG_008643.2:g.69646T>C
  • NM_001134830.2:c.2173T>C
  • NM_001134831.2:c.2173T>CMANE SELECT
  • NM_001134832.2:c.2173T>C
  • NM_001350503.2:c.2173T>C
  • NM_001350504.2:c.2173T>C
  • NM_017651.4:c.2173T>C
  • NM_017651.5:c.2173T>C
  • NP_001128302.1:p.Trp725Arg
  • NP_001128303.1:p.Trp725Arg
  • NP_001128304.1:p.Trp725Arg
  • NP_001337432.1:p.Trp725Arg
  • NP_001337433.1:p.Trp725Arg
  • NP_060121.3:p.Trp725Arg
  • NP_060121.3:p.Trp725Arg
  • NC_000006.11:g.135754258A>G
  • NM_001134831.1:c.2173T>C
Protein change:
W725R
Links:
dbSNP: rs863225144
NCBI 1000 Genomes Browser:
rs863225144
Molecular consequence:
  • NM_001134830.2:c.2173T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.2173T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.2173T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.2173T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.2173T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.4:c.2173T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.2173T>C - 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
SCV000256271UW Hindbrain Malformation Research Program,University of Washington

See additional submitters

criteria provided, single submitter
Pathogenic
(Feb 23, 2015)
unknownresearch

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

SCV002010698Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresdencriteria provided, single submitter
Pathogenic
(Nov 3, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, et al.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

PubMed [citation]
PMID:
26092869
PMCID:
PMC5082428

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 UW Hindbrain Malformation Research Program,University of Washington, SCV000256271.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002010698.1

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

Last Updated: Nov 20, 2021

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