U.S. flag

An official website of the United States government

NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 5, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000595963.8

Allele description [Variation Report for NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)]

NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)

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.334G>A (p.Gly112Arg)
HGVS:
  • NC_000006.12:g.52079956C>T
  • NG_008753.1:g.12670G>A
  • NM_138694.4:c.334G>AMANE SELECT
  • NM_170724.3:c.334G>A
  • NP_619639.3:p.Gly112Arg
  • NP_733842.2:p.Gly112Arg
  • NC_000006.11:g.51944754C>T
  • NM_138694.3:c.334G>A
Protein change:
G112R
Links:
dbSNP: rs149841071
NCBI 1000 Genomes Browser:
rs149841071
Molecular consequence:
  • NM_138694.4:c.334G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170724.3:c.334G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000704700Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Dec 20, 2017) 		germlineclinical testing

Citation Link,

SCV002568644GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 5, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000704700.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV002568644.2

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

Description

Reported with additional PKHD1 variants (phase unknown) in a patient with polycystic kidney disease in published literature (Bergmann et al., 2005); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25525159, 25646624, 33112055, 15698423)

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

Last Updated: Apr 15, 2024