NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) AND Polycystic kidney disease 4

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 5, 2022
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:: RCV001653942.2

Allele description [Variation Report for NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)]

NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)

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.9241A>G (p.Ile3081Val)

Other names:

p.Ile3081Val

HGVS:

NC_000006.12:g.51748375T>C
NG_008753.1:g.344251A>G
NM_138694.4:c.9241A>GMANE SELECT
NM_170724.3:c.9241A>G
NP_619639.3:p.Ile3081Val
NP_733842.2:p.Ile3081Val
NC_000006.11:g.51613173T>C
NM_138694.3:c.9241A>G

Protein change:

I3081V

Links:

dbSNP: rs142146981

NCBI 1000 Genomes Browser:

rs142146981

Molecular consequence:

NM_138694.4:c.9241A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_170724.3:c.9241A>G - missense variant - [Sequence Ontology: SO:0001583]

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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TPR repeat protein [Sphingobium sp. SYK-6]
TPR repeat protein [Sphingobium sp. SYK-6]
gi|345135304|dbj|BAK64913.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897289	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 5, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001870376	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 29, 2021)	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000897289

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 5, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001870376

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 29, 2021)

maternal

research

PubMed (1)
[See all records that cite this PMID]

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	maternal	unknown	1	not provided	not provided	1	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000897289.2

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

#	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

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS, SCV001870376.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

Description

ACMG codes:PM2, PM3, PP3

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

Last Updated: Mar 30, 2024

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