NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) AND Autosomal dominant polycystic kidney disease

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001254256.1

Allele description [Variation Report for NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)]

NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)

Genes:
PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
LOC105371049:uncharacterized LOC105371049 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
HGVS:
  • NC_000016.10:g.2092500C>T
  • NG_008617.1:g.50721G>A
  • NM_000296.4:c.11246G>A
  • NM_001009944.3:c.11249G>AMANE SELECT
  • NP_000287.4:p.Arg3749Gln
  • NP_001009944.3:p.Arg3750Gln
  • NC_000016.9:g.2142501C>T
  • NM_001009944.2:c.11249G>A
  • p.R3750Q
Protein change:
R3749Q
Links:
dbSNP: rs1327414405
NCBI 1000 Genomes Browser:
rs1327414405
Molecular consequence:
  • NM_000296.4:c.11246G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001009944.3:c.11249G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant polycystic kidney disease (ADPKD)
Identifiers:
MONDO: MONDO:0004691; MedGen: C0085413

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001430296Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Researchcriteria provided, single submitter
Likely pathogenic
(Jan 1, 2019)
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 Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research, SCV001430296.1

#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: Oct 7, 2021

Support Center