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NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) AND Joubert syndrome 30

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 16, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000515496.1

Allele description [Variation Report for NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)]

NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)

Gene:
ARMC9:armadillo repeat containing 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)
HGVS:
  • NC_000002.12:g.231276775G>A
  • NM_001271466.4:c.1474G>A
  • NM_001291656.2:c.1474G>A
  • NM_001352754.2:c.1474G>AMANE SELECT
  • NM_001352755.2:c.1474G>A
  • NM_001352756.2:c.1474G>A
  • NM_001352757.2:c.1375G>A
  • NM_001352758.2:c.1375G>A
  • NM_001352759.2:c.1474G>A
  • NM_025139.6:c.1474G>A
  • NM_025139.6:c.1474G>A
  • NP_001258395.2:p.Gly492Arg
  • NP_001278585.2:p.Gly492Arg
  • NP_001339683.2:p.Gly492Arg
  • NP_001339684.2:p.Gly492Arg
  • NP_001339685.2:p.Gly492Arg
  • NP_001339686.2:p.Gly459Arg
  • NP_001339687.2:p.Gly459Arg
  • NP_001339688.2:p.Gly492Arg
  • NP_079415.4:p.Gly492Arg
  • NC_000002.11:g.232141488G>A
  • NC_000002.11:g.232141488G>A
  • NM_025139.4:c.1474G>A
  • NR_148040.2:n.1583G>A
Protein change:
G459R; GLY492ARG
Links:
OMIM: 617612.0007; dbSNP: rs780265931
NCBI 1000 Genomes Browser:
rs780265931
Molecular consequence:
  • NM_001271466.4:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291656.2:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352754.2:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352755.2:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352756.2:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352757.2:c.1375G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352758.2:c.1375G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352759.2:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025139.6:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148040.2:n.1583G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Joubert syndrome 30
Identifiers:
MONDO: MONDO:0033308; MedGen: C4539937; OMIM: 617622

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611583OMIM
no assertion criteria provided
Pathogenic
(Aug 16, 2017) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics., Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, et al.

Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15.

PubMed [citation]
PMID:
28625504
PMCID:
PMC5501774

Details of each submission

From OMIM, SCV000611583.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.1474G-A transition (c.1474G-A, NM_025139.4) in the ARMC9 gene, resulting in a gly492-to-arg (G492R) substitution, that was found in compound heterozygous state in a patient with Joubert syndrome-30 (JBTS30; 617622) by Van De Weghe et al. (2017), see 617612.0005.

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

Last Updated: Feb 14, 2024