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NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) AND Autosomal recessive polycystic kidney disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2002
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:
RCV000004325.4

Allele description [Variation Report for NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe)]

NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe)

Genes:
LOC126859690:MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047 [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.4991C>T (p.Ser1664Phe)
HGVS:
  • NC_000006.12:g.52024819G>A
  • NG_008753.1:g.67807C>T
  • NM_138694.4:c.4991C>TMANE SELECT
  • NM_170724.3:c.4991C>T
  • NP_619639.3:p.Ser1664Phe
  • NP_733842.2:p.Ser1664Phe
  • NC_000006.11:g.51889617G>A
  • P08F94:p.Ser1664Phe
Protein change:
S1664F; SER1664PHE
Links:
UniProtKB: P08F94#VAR_014052; OMIM: 606702.0002; dbSNP: rs28937907
NCBI 1000 Genomes Browser:
rs28937907
Molecular consequence:
  • NM_138694.4:c.4991C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170724.3:c.4991C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024496OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2002) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC.

Nat Genet. 2002 Mar;30(3):259-69. Epub 2002 Feb 4.

PubMed [citation]
PMID:
11919560

Details of each submission

From OMIM, SCV000024496.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a female infant in whom the diagnosis of autosomal recessive polycystic kidney disease (PKD4; 263200) was made at the age of 9 months on the basis of abdominal mass, Ward et al. (2002) found compound heterozygosity for 2 missense mutations in the PKHD1 gene: ser1664 to phe (S1664F), resulting from a 4991C-T transition, and ser3018 to phe (S3018F; 606702.0003), resulting from a 9053C-T transition. The infant had congenital hepatic fibrosis and Caroli disease. Bilateral inguinal hernias, pyloric stenosis, and very low uric acid were also described.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023