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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 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:
RCV000491687.1

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:
ARMC9-related Joubert syndrome
Identifiers:
MedGen: CN262509

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000579399UW Hindbrain Malformation Research Program, University of Washington
no assertion criteria provided
Pathogenic
(May 1, 2017) 		maternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From UW Hindbrain Malformation Research Program, University of Washington, SCV000579399.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024