NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000788943.3

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]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000928243Blueprint Geneticscriteria provided, single submitter
Pathogenic
(Feb 21, 2019)
germlineclinical testing

Citation Link,

SCV001248131CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Dec 1, 2019)
germlineclinical testing

Citation Link

Description

Patient analyzed with Polycystic Kidney Disease Panel

SCV000928243

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000928243.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001248131.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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