NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) AND Polycystic kidney disease, adult type

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000625531.2

Allele description [Variation Report for NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)]

NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)

Gene:
PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)
HGVS:
  • NC_000016.10:g.2118095_2118096del
  • NG_008617.1:g.22803_22804del
  • NM_000296.4:c.896_897del
  • NM_001009944.3:c.896_897delMANE SELECT
  • NP_000287.4:p.Pro299fs
  • NP_001009944.3:p.Pro299fs
  • NC_000016.9:g.2168096_2168097del
  • NM_001009944.2:c.896_897delCT
Protein change:
P299fs
Links:
dbSNP: rs1555459084
NCBI 1000 Genomes Browser:
rs1555459084
Molecular consequence:
  • NM_000296.4:c.896_897del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001009944.3:c.896_897del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Polycystic kidney disease, adult type (PKD1)
Synonyms:
Polycystic Kidney, Autosomal Dominant; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I; Polycystic kidney disease 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008263; MedGen: C3149841; OMIM: 173900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000746026Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcareno assertion criteria providedLikely pathogenic
(Sep 18, 2017)
germlineclinical testing

SCV001425203Molecular Biology Laboratory, Fundació Puigvert - KidneyPanel_2020criteria provided, single submitter
Pathogenic
(Feb 1, 2020)
germlineresearch

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

Summary from all submissions

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

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

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, Ruiz P, Fraga G, López González M, Piñero-Fernández JA, Rodríguez-Peña L, Llano-Rivas I, Sáez R, Bujons-Tur A, Ariceta G, Lluis G, Torra R, Ars E.

Nephrol Dial Transplant. 2021 Feb 3. doi:pii: gfab019. 10.1093/ndt/gfab019. [Epub ahead of print]

PubMed [citation]
PMID:
33532864

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare, SCV000746026.1

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

From Molecular Biology Laboratory, Fundació Puigvert - KidneyPanel_2020, SCV001425203.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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