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NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) AND Joubert syndrome 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001004929.2

Allele description [Variation Report for NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro)]

NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro)

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.2573T>C (p.Leu858Pro)
HGVS:
  • NC_000006.12:g.135428679A>G
  • NG_008643.2:g.74087T>C
  • NM_001134830.2:c.2573T>C
  • NM_001134831.2:c.2573T>CMANE SELECT
  • NM_001134832.2:c.2573T>C
  • NM_001350503.2:c.2573T>C
  • NM_001350504.2:c.2573T>C
  • NM_017651.5:c.2573T>C
  • NP_001128302.1:p.Leu858Pro
  • NP_001128303.1:p.Leu858Pro
  • NP_001128304.1:p.Leu858Pro
  • NP_001337432.1:p.Leu858Pro
  • NP_001337433.1:p.Leu858Pro
  • NP_060121.3:p.Leu858Pro
  • NC_000006.11:g.135749817A>G
  • p.Leu858Pro
Protein change:
L858P
Links:
dbSNP: rs1583187059
NCBI 1000 Genomes Browser:
rs1583187059
Molecular consequence:
  • NM_001134830.2:c.2573T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.2573T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.2573T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.2573T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.2573T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.2573T>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001164446Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 3, 2018) 		germlineresearch

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

Help

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 Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV001164446.1

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

Description

The homozygous p.Leu858Pro variant in AHI1 was identified by our study in one individual with Joubert syndrome. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, this clinical significance of the p.Leu858Pro variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).

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

Last Updated: Oct 8, 2024