NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) AND Joubert syndrome 3

Clinical significance:Uncertain significance (Last evaluated: Jan 8, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)]

NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)

AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)
  • NC_000006.12:g.135457593C>T
  • NG_008643.2:g.45173G>A
  • NM_001134830.2:c.1052G>A
  • NM_001134831.2:c.1052G>AMANE SELECT
  • NM_001134832.2:c.1052G>A
  • NM_001350503.2:c.1052G>A
  • NM_001350504.2:c.1052G>A
  • NM_017651.4:c.1052G>A
  • NM_017651.5:c.1052G>A
  • NP_001128302.1:p.Arg351Gln
  • NP_001128303.1:p.Arg351Gln
  • NP_001128304.1:p.Arg351Gln
  • NP_001337432.1:p.Arg351Gln
  • NP_001337433.1:p.Arg351Gln
  • NP_060121.3:p.Arg351Gln
  • NP_060121.3:p.Arg351Gln
  • NC_000006.11:g.135778731C>T
Protein change:
dbSNP: rs397514726
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001134830.2:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.4:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]


Joubert syndrome 3 (JBTS3)
Joubert syndrome with ocular anomalies; AHI1-related Ciliopathy
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)
SCV000993620HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGScriteria provided, single submitter
Uncertain significance
(Jan 8, 2019)

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

SCV001316981Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Mar 30, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedpaternalyes1not providednot provided1not providedresearch



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]

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS, SCV000993620.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1not providednot provided1not providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV001316981.1

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


This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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