NM_001009944.3(PKD1):c.2153A>G (p.Gln718Arg) AND Polycystic kidney disease, adult type

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 5, 2022
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:: RCV004545916.2

Allele description [Variation Report for NM_001009944.3(PKD1):c.2153A>G (p.Gln718Arg)]

NM_001009944.3(PKD1):c.2153A>G (p.Gln718Arg)

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.2153A>G (p.Gln718Arg)

HGVS:

NC_000016.10:g.2114870T>C
NG_008617.1:g.26029A>G
NM_000296.4:c.2153A>G
NM_001009944.3:c.2153A>GMANE SELECT
NP_000287.4:p.Gln718Arg
NP_001009944.2:p.Gln718Arg
NP_001009944.3:p.Gln718Arg
NC_000016.9:g.2164871T>C
NM_001009944.2:c.2153A>G

Protein change:

Q718R

Molecular consequence:

NM_000296.4:c.2153A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001009944.3:c.2153A>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

Recent activity

Clear Turn Off Turn On

Profile neighbors for GEO Profiles (Select 62770766) (200)
GEO Profiles

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005040895	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Uncertain significance (Aug 5, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005040895

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Uncertain significance
(Aug 5, 2022)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005040895.1

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

Description

ACMG Criteria: PM2_SUP, BP4 (ACMG Version 4)

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

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine