NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs) AND not provided

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:
RCV001249166.1

Allele description [Variation Report for NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs)]

NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs)

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.12326_12335del (p.Arg4109fs)
HGVS:
  • NC_000016.10:g.2090396_2090405del
  • NG_005895.1:g.46091_46100del
  • NG_008617.1:g.52818_52827del
  • NM_000296.4:c.12323_12332del
  • NM_001009944.3:c.12326_12335delMANE SELECT
  • NP_000287.4:p.Arg4108fs
  • NP_001009944.3:p.Arg4109fs
  • LRG_487:g.46091_46100del
  • NC_000016.9:g.2140397_2140406del
  • NM_001009944.2:c.12326_12335del
Protein change:
R4108fs
Molecular consequence:
  • NM_000296.4:c.12323_12332del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001009944.3:c.12326_12335del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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
SCV001422371Molecular 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

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, SCV001422371.1

#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: Aug 1, 2020

Support Center