NM_005732.4(RAD50):c.2177G>A (p.Arg726His) AND Premature ovarian insufficiency

Clinical significance:Uncertain significance (Last evaluated: Jan 11, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000766182.2

Allele description [Variation Report for NM_005732.4(RAD50):c.2177G>A (p.Arg726His)]

NM_005732.4(RAD50):c.2177G>A (p.Arg726His)

Gene:
RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)
Other names:
p.R726H:CGT>CAT
HGVS:
  • NC_000005.10:g.132595780G>A
  • NG_021151.1:g.43857G>A
  • NG_021151.2:g.43804G>A
  • NM_005732.4:c.2177G>AMANE SELECT
  • NP_005723.2:p.Arg726His
  • LRG_312t1:c.2177G>A
  • LRG_312:g.43804G>A
  • LRG_312p1:p.Arg726His
  • NC_000005.9:g.131931472G>A
  • NM_005732.3:c.2177G>A
  • p.R726H
Protein change:
R726H
Links:
dbSNP: rs28903092
NCBI 1000 Genomes Browser:
rs28903092
Molecular consequence:
  • NM_005732.4:c.2177G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000882516Reproductive Development, Murdoch Childrens Research Instituteno assertion criteria provided
Uncertain significance
(Jan 11, 2018)
germlineresearch

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

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, SCV000882516.1

#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: Nov 27, 2021

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