NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000992558.1

Allele description [Variation Report for NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)]

NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)

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.12391_12393del (p.Glu4131del)
HGVS:
  • NC_000016.10:g.2090337_2090339del
  • NG_005895.1:g.46032_46034del
  • NG_008617.1:g.52883_52885del
  • NM_000296.4:c.12388_12390del
  • NM_001009944.3:c.12391_12393delMANE SELECT
  • NP_000287.4:p.Glu4130del
  • NP_001009944.3:p.Glu4131del
  • LRG_487:g.46032_46034del
  • NC_000016.9:g.2140338_2140340del
  • NM_000296.3:c.12388_12390del
  • NM_001009944.2:c.12391_12393del
  • NM_001009944.2:c.12391_12393delGAG
Protein change:
E4130del
Links:
dbSNP: rs1555444468
NCBI 1000 Genomes Browser:
rs1555444468
Molecular consequence:
  • NM_000296.4:c.12388_12390del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001009944.3:c.12391_12393del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001144957Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Mar 25, 2019)
germlineclinical 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

Citations

PubMed

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

Hwang YH, Conklin J, Chan W, Roslin NM, Liu J, He N, Wang K, Sundsbak JL, Heyer CM, Haider M, Paterson AD, Harris PC, Pei Y.

J Am Soc Nephrol. 2016 Jun;27(6):1861-8. doi: 10.1681/ASN.2015060648. Epub 2015 Oct 9.

PubMed [citation]
PMID:
26453610
PMCID:
PMC4884120

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 Athena Diagnostics Inc, SCV001144957.1

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

Last Updated: Oct 8, 2021

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