NM_000297.4(PKD2):c.481_502del (p.Gly161fs) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 5, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000508048.8

Allele description [Variation Report for NM_000297.4(PKD2):c.481_502del (p.Gly161fs)]

NM_000297.4(PKD2):c.481_502del (p.Gly161fs)

Genes:

LOC129992813:ATAC-STARR-seq lymphoblastoid silent region 15559 [Gene]
PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q22.1

Genomic location:

Preferred name:

NM_000297.4(PKD2):c.481_502del (p.Gly161fs)

HGVS:

NC_000004.12:g.88008214_88008235del
NG_008604.1:g.5547_5568del
NM_000297.4:c.481_502delMANE SELECT
NP_000288.1:p.Gly161fs
NC_000004.11:g.88929366_88929387del
NM_000297.3:c.481_502del
NM_000297.3:c.481_502delGGCCCGCCGTGCCCCAGCCCAG
NR_156488.2:n.580_601del
p.Gly161fs

Protein change:

G161fs

Links:

dbSNP: rs1553923513

NCBI 1000 Genomes Browser:

rs1553923513

Molecular consequence:

NM_000297.4:c.481_502del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_156488.2:n.580_601del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000604828	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (Dec 5, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000604828

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(Dec 5, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000604828.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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