NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 3, 2020)

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:
RCV000757636.2

Allele description [Variation Report for NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)]

NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)

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.2879G>A (p.Gly960Asp)
HGVS:
  • NC_000016.10:g.2113267C>T
  • NG_008617.1:g.27632G>A
  • NM_000296.4:c.2879G>A
  • NM_001009944.3:c.2879G>AMANE SELECT
  • NP_000287.4:p.Gly960Asp
  • NP_001009944.3:p.Gly960Asp
  • NC_000016.9:g.2163268C>T
  • NM_000296.3:c.2879G>A
  • NM_001009944.2:c.2879G>A
Protein change:
G960D
Links:
dbSNP: rs1567208088
NCBI 1000 Genomes Browser:
rs1567208088
Molecular consequence:
  • NM_000296.4:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001009944.3:c.2879G>A - 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
SCV000885936ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Oct 17, 2017)
germlineclinical testing

Citation Link,

SCV001476599Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Mar 3, 2020)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Rossetti S, Hopp K, Sikkink RA, Sundsbak JL, Lee YK, Kubly V, Eckloff BW, Ward CJ, Winearls CG, Torres VE, Harris PC.

J Am Soc Nephrol. 2012 May;23(5):915-33. doi: 10.1681/ASN.2011101032. Epub 2012 Mar 1.

PubMed [citation]
PMID:
22383692
PMCID:
PMC3338301

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000885936.1

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

From Athena Diagnostics Inc, SCV001476599.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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