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NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Feb 10, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000497534.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)]

NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)

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.2156A>G (p.Asp719Gly)
HGVS:
  • NC_000006.12:g.135433137T>C
  • NG_008643.2:g.69629A>G
  • NM_001134830.2:c.2156A>G
  • NM_001134831.2:c.2156A>GMANE SELECT
  • NM_001134832.2:c.2156A>G
  • NM_001350503.2:c.2156A>G
  • NM_001350504.2:c.2156A>G
  • NM_017651.5:c.2156A>G
  • NP_001128302.1:p.Asp719Gly
  • NP_001128303.1:p.Asp719Gly
  • NP_001128304.1:p.Asp719Gly
  • NP_001337432.1:p.Asp719Gly
  • NP_001337433.1:p.Asp719Gly
  • NP_060121.3:p.Asp719Gly
  • NP_060121.3:p.Asp719Gly
  • NC_000006.11:g.135754275T>C
  • NM_001134831.1:c.2156A>G
  • NM_017651.4:c.2156A>G
  • Q8N157:p.Asp719Gly
Protein change:
D719G
Links:
UniProtKB: Q8N157#VAR_076821; dbSNP: rs863225134
NCBI 1000 Genomes Browser:
rs863225134
Molecular consequence:
  • NM_001134830.2:c.2156A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.2156A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.2156A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.2156A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.2156A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.2156A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000589649GeneDxcriteria provided, single submitter
Likely pathogenic
(Feb 10, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000589649.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The D719G variant has been reported previously as a homozygous variant in two siblings with Joubert syndrome and was classified as presumed causal for these individuals (Bachmann-Gagescu et al., 2015; Parisi et al., 2006). Missense variants in nearby residues (R723Q and W725R) have also been reported in the Human Gene Mutation Database in association with Joubert syndrome (Stenson et al., 2014). The D719G variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the D719G variant is damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Apr 23, 2022

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