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NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 21, 2019
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:
RCV001201405.2

Allele description [Variation Report for NM_004837.4(GGPS1):c.782G>A (p.Arg261His)]

NM_004837.4(GGPS1):c.782G>A (p.Arg261His)

Gene:
GGPS1:geranylgeranyl diphosphate synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.3
Genomic location:
Preferred name:
NM_004837.4(GGPS1):c.782G>A (p.Arg261His)
HGVS:
  • NC_000001.11:g.235342651G>A
  • NM_001037277.1:c.782G>A
  • NM_001037278.2:c.620G>A
  • NM_001371477.1:c.782G>A
  • NM_001371478.1:c.782G>A
  • NM_004837.4:c.782G>AMANE SELECT
  • NP_001032354.1:p.Arg261His
  • NP_001032355.1:p.Arg207His
  • NP_001358406.1:p.Arg261His
  • NP_001358407.1:p.Arg261His
  • NP_004828.1:p.Arg261His
  • NC_000001.10:g.235505966G>A
  • NM_001037277.1:c.866G>A
  • NM_004837.3:c.782G>A
Protein change:
R207H; ARG261HIS
Links:
OMIM: 606982.0004; dbSNP: rs1262402879
NCBI 1000 Genomes Browser:
rs1262402879
Molecular consequence:
  • NM_001037277.1:c.782G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001037278.2:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371477.1:c.782G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371478.1:c.782G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004837.4:c.782G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sensorineural hearing loss disorder
Synonyms:
Sensorineural hearing loss; Sensorineural hearing impairment
Identifiers:
MONDO: MONDO:0020678; MeSH: D006319; MedGen: C0018784; Human Phenotype Ontology: HP:0000407
Name:
Myopathy
Synonyms:
Muscle disorders
Identifiers:
MONDO: MONDO:0005336; MeSH: D009135; MedGen: C0026848; Human Phenotype Ontology: HP:0003198
Name:
Premature ovarian insufficiency
Synonyms:
Premature menopause
Identifiers:
MONDO: MONDO:0001119; MedGen: C0025322; Human Phenotype Ontology: HP:0008209

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001244311Reproductive Development, Murdoch Childrens Research Institute
no assertion criteria provided

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 21, 2019) 		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 Reproductive Development, Murdoch Childrens Research Institute, SCV001244311.1

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

Last Updated: May 12, 2024