NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg) AND Polycystic kidney disease, adult type

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001175139.1

Allele description [Variation Report for NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg)]

NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg)

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.7286T>G (p.Met2429Arg)

HGVS:

NC_000016.10:g.2106601A>C
NG_008617.1:g.34298T>G
NM_000296.4:c.7286T>G
NM_001009944.3:c.7286T>GMANE SELECT
NP_000287.4:p.Met2429Arg
NP_001009944.3:p.Met2429Arg
NC_000016.9:g.2156602A>C
NM_001009944.2:c.7286T>G

Protein change:

M2429R

Links:

dbSNP: rs1430979320

NCBI 1000 Genomes Browser:

rs1430979320

Molecular consequence:

NM_000296.4:c.7286T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001009944.3:c.7286T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001334272	Institute of Human Genetics, Cologne University	no assertion criteria provided	Uncertain significance	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001334272

Institute of Human Genetics, Cologne University

no assertion criteria provided

Uncertain significance

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV001334272.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	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	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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