NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Dec 31, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000405309.9

Allele description [Variation Report for NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)]

NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)

Gene:

PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q22.1

Genomic location:

Preferred name:

NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)

HGVS:

NC_000004.12:g.88067950G>A
NG_008604.1:g.65283G>A
NM_000297.4:c.2411G>AMANE SELECT
NP_000288.1:p.Ser804Asn
NC_000004.11:g.88989102G>A
NM_000297.3:c.2411G>A
NR_156488.2:n.2389G>A

Protein change:

S804N

Links:

dbSNP: rs145343957

NCBI 1000 Genomes Browser:

rs145343957

Molecular consequence:

NM_000297.4:c.2411G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_156488.2:n.2389G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

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
SCV000343762	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Jul 11, 2016)	germline	clinical testing	Citation Link,
SCV001879479	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics criteria)	Benign (Dec 31, 2020)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17582161, 20881056, 27499327, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000343762

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Jul 11, 2016)

germline

clinical testing

Citation Link,

SCV001879479

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics criteria)

Benign
(Dec 31, 2020)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, Zhang QJ, Thompson PA, Miller JP, Harris PC; CRISP Consortium.

J Am Soc Nephrol. 2007 Jul;18(7):2143-60. Epub 2007 Jun 20.

PubMed [citation]

PMID:: 17582161

Protein kinase D-mediated phosphorylation of polycystin-2 (TRPP2) is essential for its effects on cell growth and calcium channel activity.

Streets AJ, Needham AJ, Gill SK, Ong AC.

Mol Biol Cell. 2010 Nov 15;21(22):3853-65. doi: 10.1091/mbc.E10-04-0377. Epub 2010 Sep 29.

PubMed [citation]

PMID:: 20881056
PMCID:: PMC2982124

See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000343762.5

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

From Athena Diagnostics, SCV001879479.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: May 25, 2025

ClinVar

Relating variation to medicine