NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) AND Polycystic kidney disease 4

Clinical significance:Pathogenic (Last evaluated: Nov 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001331692.1

Allele description [Variation Report for NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)]

NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)

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.10444C>T (p.Arg3482Cys)
HGVS:
  • NC_000006.12:g.51659682G>A
  • NG_008753.1:g.432944C>T
  • NM_138694.4:c.10444C>TMANE SELECT
  • NP_619639.3:p.Arg3482Cys
  • NC_000006.11:g.51524480G>A
  • NM_138694.3:c.10444C>T
  • P08F94:p.Arg3482Cys
Protein change:
R3482C
Links:
UniProtKB: P08F94#VAR_018591; dbSNP: rs148617572
NCBI 1000 Genomes Browser:
rs148617572
Molecular consequence:
  • NM_138694.4:c.10444C>T - 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; POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE
Identifiers:
MONDO: MONDO:0033004; MedGen: CN293399; OMIM: 263200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001523788Baylor Geneticscriteria provided, single submitter
Pathogenic
(Nov 7, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

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

Details of each submission

From Baylor Genetics, SCV001523788.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Aug 27, 2021

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