NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 5, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000726420.2

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]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000344513EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Aug 5, 2016)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV001805444GeneDxno assertion criteria provided
Likely pathogenic
(Jun 24, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schöneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K.

J Am Soc Nephrol. 2003 Jan;14(1):76-89.

PubMed [citation]
PMID:
12506140

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Senderek J, Schneider F, Dornia C, Küpper F, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Moser M, Büttner R, Zerres K.

Hum Mutat. 2004 May;23(5):487-95.

PubMed [citation]
PMID:
15108281
See all PubMed Citations (4)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000344513.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001805444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30275481, 19940839, 15805161, 25114813, 26385851, 19914852, 15698423, 15108277, 26721323, 12506140, 15108281)

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

Last Updated: Aug 27, 2021

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