NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) AND Joubert syndrome 3

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001250414.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)]

NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)

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.1148A>G (p.Asp383Gly)
HGVS:
  • NC_000006.12:g.135457497T>C
  • NG_008643.2:g.45269A>G
  • NM_001134830.2:c.1148A>G
  • NM_001134831.2:c.1148A>GMANE SELECT
  • NM_001134832.2:c.1148A>G
  • NM_001350503.2:c.1148A>G
  • NM_001350504.2:c.1148A>G
  • NM_017651.4:c.1148A>G
  • NM_017651.5:c.1148A>G
  • NP_001128302.1:p.Asp383Gly
  • NP_001128303.1:p.Asp383Gly
  • NP_001128304.1:p.Asp383Gly
  • NP_001337432.1:p.Asp383Gly
  • NP_001337433.1:p.Asp383Gly
  • NP_060121.3:p.Asp383Gly
  • NP_060121.3:p.Asp383Gly
  • NC_000006.11:g.135778635T>C
  • p.Asp383Gly
Protein change:
D383G
Links:
dbSNP: rs1789162289
NCBI 1000 Genomes Browser:
rs1789162289
Molecular consequence:
  • NM_001134830.2:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.4:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218]
Observations:
1

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001364068Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlincriteria provided, single submitter
Likely pathogenicgermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV001364068.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

We could detect the variant c.1148A>G in the AHI1 gene in your patient in a homozygous state. Bioinformatic prediction programs predict the activation of a cryptic splice donor site. Several splice site mutations in the AHI1 gene have been described as the cause of Joubert's syndrome. According to the current state of knowledge, this is a probably pathogenic mutation (class IV).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

Support Center