NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) AND Autosomal recessive polycystic kidney disease

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 22, 2014
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:: RCV000169507.1

Allele description

NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.2

Genomic location:

Preferred name:

NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)

HGVS:

NC_000006.12:g.52054122A>T
NG_008753.1:g.38504T>A
NM_138694.4:c.1880T>AMANE SELECT
NM_170724.3:c.1880T>A
NP_619639.3:p.Met627Lys
NP_733842.2:p.Met627Lys
NC_000006.11:g.51918920A>T
NM_138694.3:c.1880T>A

Protein change:

M627K

Links:

dbSNP: rs786204696

NCBI 1000 Genomes Browser:

rs786204696

Molecular consequence:

NM_138694.4:c.1880T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170724.3:c.1880T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive polycystic kidney disease (PKD4)
Synonyms:: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I; Polycystic kidney disease, infantile type; See all synonyms [MedGen]
Identifiers:: MedGen: C0085548; Orphanet: 731; OMIM: 263200

Recent activity

Clear Turn Off Turn On

PREDICTED: Oryza sativa Japonica Group protein disulfide isomerase-like 1-3 (LOC...
PREDICTED: Oryza sativa Japonica Group protein disulfide isomerase-like 1-3 (LOC4329652), mRNA
gi|1002243643|ref|XM_015770565.1|

Nucleotide
Campylobacter jejuni subsp. jejuni 1997-4 n_119_l_419_c_30.529833, whole genome ...
Campylobacter jejuni subsp. jejuni 1997-4 n_119_l_419_c_30.529833, whole genome shotgun sequence
gi|380638913|gb|AIOW01000107.1||gnl AIOW01|n_119_l_419_c_30.529833

Nucleotide
RecName: Full=Nucleoporin NUP188; Short=hNup188
RecName: Full=Nucleoporin NUP188; Short=hNup188
gi|74743623|sp|Q5SRE5.1|NU188_HUMAN

Protein

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
SCV000220972	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Pathogenic (Dec 22, 2014)	unknown	literature only	PubMed (3) [See all records that cite these PMIDs] 15805161, 24984783, 25193386 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000220972

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Pathogenic
(Dec 22, 2014)

unknown

literature only

PubMed (3)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

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	literature only

Citations

PubMed

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM.

J Med Genet. 2005 Apr;42(4):336-49. No abstract available.

PubMed [citation]

PMID:: 15805161
PMCID:: PMC1736033

Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.

Boddu R, Yang C, O'Connor AK, Hendrickson RC, Boone B, Cui X, Garcia-Gonzalez M, Igarashi P, Onuchic LF, Germino GG, Guay-Woodford LM.

J Mol Med (Berl). 2014 Oct;92(10):1045-56. doi: 10.1007/s00109-014-1185-7. Epub 2014 Jul 3.

PubMed [citation]

PMID:: 24984783
PMCID:: PMC4197071

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000220972.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	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: Apr 22, 2020

ClinVar

Relating variation to medicine