NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 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:
RCV000757630.2

Allele description [Variation Report for NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)]

NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)

Gene:
PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)
HGVS:
  • NC_000016.10:g.2106906A>G
  • NG_008617.1:g.33993T>C
  • NM_000296.4:c.7108T>C
  • NM_001009944.3:c.7108T>CMANE SELECT
  • NP_000287.4:p.Cys2370Arg
  • NP_001009944.3:p.Cys2370Arg
  • NC_000016.9:g.2156907A>G
  • NM_000296.3:c.7108T>C
  • NM_001009944.2:c.7108T>C
Protein change:
C2370R
Links:
dbSNP: rs1567187445
NCBI 1000 Genomes Browser:
rs1567187445
Molecular consequence:
  • NM_000296.4:c.7108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001009944.3:c.7108T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000885929ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Jul 20, 2017)
germlineclinical testing

Citation Link,

SCV001422416Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Researchcriteria provided, single submitter
Likely pathogenic
(Jan 1, 2019)
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
not providedgermlineunknownnot 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 ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000885929.1

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

From Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research, SCV001422416.1

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

Last Updated: Nov 27, 2020

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