NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del) AND Autosomal recessive polycystic kidney disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 8, 2017
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:: RCV000671195.1

Allele description [Variation Report for NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del)]

NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

6p12.3

Genomic location:

Preferred name:

NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del)

HGVS:

NC_000006.12:g.51748034_51748036del
NG_008753.1:g.344593_344595del
NM_138694.4:c.9583_9585delMANE SELECT
NM_170724.3:c.9583_9585del
NP_619639.3:p.Lys3195del
NP_733842.2:p.Lys3195del
NC_000006.11:g.51612832_51612834del
NM_138694.3:c.9583_9585delAAA

Protein change:

K3195del

Links:

dbSNP: rs1554218479

NCBI 1000 Genomes Browser:

rs1554218479

Molecular consequence:

NM_138694.4:c.9583_9585del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_170724.3:c.9583_9585del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Autosomal recessive polycystic kidney disease (ARPKD)
Synonyms:: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I; Polycystic kidney disease, infantile type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009889; MeSH: D017044; MedGen: C0085548; Orphanet: 731; Orphanet: 8378

Recent activity

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Malus domestica phloretin 2'-O-glucosyltransferase (LOC103402192), mRNA
Malus domestica phloretin 2'-O-glucosyltransferase (LOC103402192), mRNA
gi|2235366135|ref|NM_001328723.2|

Nucleotide
Microbe sample from Streptomyces peucetius
Microbe sample from Streptomyces peucetius

biosample
Drak12K7262522
Drak12K7262522

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000796147	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 8, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796147

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Dec 8, 2017)

unknown

clinical testing

Citation Link

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

Details of each submission

From Counsyl, SCV000796147.1

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

Last Updated: Jul 29, 2023

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