NM_138694.4(PKHD1):c.10521C>T (p.His3507=) AND Polycystic kidney disease

Germline classification:: Benign (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:: RCV001291893.3

Allele description [Variation Report for NM_138694.4(PKHD1):c.10521C>T (p.His3507=)]

NM_138694.4(PKHD1):c.10521C>T (p.His3507=)

Gene:

PKHD1:PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.3

Genomic location:

Preferred name:

NM_138694.4(PKHD1):c.10521C>T (p.His3507=)

HGVS:

NC_000006.12:g.51659605G>A
NG_008753.1:g.433021C>T
NM_138694.4:c.10521C>TMANE SELECT
NP_619639.3:p.His3507=
NC_000006.11:g.51524403G>A
NM_138694.3:c.10521C>T
NP_619639.3:p.(=)

Links:

dbSNP: rs34460237

NCBI 1000 Genomes Browser:

rs34460237

Molecular consequence:

NM_138694.4:c.10521C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Polycystic kidney disease
Synonyms:: Polycystic kidney dysplasia; Kidney, Polycystic
Identifiers:: MONDO: MONDO:0020642; MeSH: D007690; MedGen: C0022680; OMIM: PS173900; Human Phenotype Ontology: HP:0000113

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000592909	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Benign	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000592909

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Benign

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592909.3

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

Description

The PKHD1, p.His3507His variant was identified in 6.2% of 120686 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015).

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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