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NM_017730.4(QRICH1):c.1498A>G (p.Arg500Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 2022
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:
RCV002221942.3

Allele description [Variation Report for NM_017730.4(QRICH1):c.1498A>G (p.Arg500Gly)]

NM_017730.4(QRICH1):c.1498A>G (p.Arg500Gly)

Gene:
QRICH1:glutamine rich 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NM_017730.4(QRICH1):c.1498A>G (p.Arg500Gly)
HGVS:
  • NC_000003.12:g.49047087T>C
  • NM_001320580.2:c.1498A>G
  • NM_001320581.2:c.1498A>G
  • NM_001320582.2:c.1498A>G
  • NM_001320583.2:c.1498A>G
  • NM_001320584.1:c.1498A>G
  • NM_001320585.1:c.1498A>G
  • NM_017730.4:c.1498A>G
  • NM_198880.3:c.1498A>GMANE SELECT
  • NP_001307509.1:p.Arg500Gly
  • NP_001307510.1:p.Arg500Gly
  • NP_001307511.1:p.Arg500Gly
  • NP_001307512.1:p.Arg500Gly
  • NP_001307513.1:p.Arg500Gly
  • NP_001307514.1:p.Arg500Gly
  • NP_060200.2:p.Arg500Gly
  • NP_942581.1:p.Arg500Gly
  • NC_000003.11:g.49084520T>C
  • NM_017730.3:c.1498A>G
Protein change:
R500G
Links:
dbSNP: rs2093343142

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002499227Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jan 26, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

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 Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV002499227.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

PP2, PP3, PM2

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

Last Updated: Dec 24, 2023