NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) AND Joubert syndrome 3

Clinical significance:Uncertain significance (Last evaluated: Jun 15, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000785932.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)]

NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)

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.2267G>T (p.Gly756Val)
HGVS:
  • NC_000006.12:g.135431314C>A
  • NG_008643.2:g.71452G>T
  • NM_001134830.2:c.2267G>T
  • NM_001134831.2:c.2267G>TMANE SELECT
  • NM_001134832.2:c.2267G>T
  • NM_001350503.2:c.2267G>T
  • NM_001350504.2:c.2267G>T
  • NM_017651.5:c.2267G>T
  • NP_001128302.1:p.Gly756Val
  • NP_001128303.1:p.Gly756Val
  • NP_001128304.1:p.Gly756Val
  • NP_001337432.1:p.Gly756Val
  • NP_001337433.1:p.Gly756Val
  • NP_060121.3:p.Gly756Val
  • NC_000006.11:g.135752452C>A
Protein change:
G756V
Links:
dbSNP: rs372012542
NCBI 1000 Genomes Browser:
rs372012542
Molecular consequence:
  • NM_001134830.2:c.2267G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.2267G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.2267G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.2267G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.2267G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.2267G>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
SCV000924512Broad Institute Rare Disease Group, Broad Institutecriteria provided, single submitter
Uncertain significance
(Jun 15, 2018)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Broad Institute Rare Disease Group, Broad Institute, SCV000924512.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The homozygous p.Gly756Val variant was identified by our study in one individual with Joubert syndrome. This variant was absent from large population studies. The Glycine (Gly) at position 756 is highly conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain.

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

Last Updated: Oct 24, 2021

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