NM_138694.4(PKHD1):c.6187del (p.Ala2063fs) AND Polycystic kidney disease 4

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 16, 2021
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:: RCV002307312.2

Allele description [Variation Report for NM_138694.4(PKHD1):c.6187del (p.Ala2063fs)]

NM_138694.4(PKHD1):c.6187del (p.Ala2063fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

6p12.2

Genomic location:

Preferred name:

NM_138694.4(PKHD1):c.6187del (p.Ala2063fs)

HGVS:

NC_000006.12:g.51912512del
NG_008753.1:g.180115del
NM_138694.4:c.6187delMANE SELECT
NM_170724.3:c.6187del
NP_619639.3:p.Ala2063fs
NP_733842.2:p.Ala2063fs
NC_000006.11:g.51777310del

Protein change:

A2063fs

Molecular consequence:

NM_138694.4:c.6187del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170724.3:c.6187del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Polycystic kidney disease 4 (PKD4)
Synonyms:: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
Identifiers:: MONDO: MONDO:0033004; MedGen: C4540575; OMIM: 263200

Recent activity

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Mus musculus G protein-coupled receptor 4 (Gpr4), mRNA
Mus musculus G protein-coupled receptor 4 (Gpr4), mRNA
gi|28316757|ref|NM_175668.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002604783	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Dec 16, 2021)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002604783

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Dec 16, 2021)

unknown

clinical testing

Citation Link

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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

Details of each submission

From Myriad Genetics, Inc., SCV002604783.2

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

Description

NM_138694.3(PKHD1):c.6187delG(A2063Lfs*2) is expected to be pathogenic in the context of autosomal recessive polycystic kidney disease, PKHD1-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PKHD1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#	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: Mar 30, 2024

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