NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) AND not specified

Clinical significance:Benign (Last evaluated: Apr 15, 2013)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000082533.8

Allele description [Variation Report for NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)]

NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)

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.2027C>G (p.Pro676Arg)
HGVS:
  • NC_000006.12:g.52053189G>C
  • NG_008753.1:g.39437C>G
  • NM_138694.4:c.2027C>GMANE SELECT
  • NM_170724.3:c.2027C>G
  • NP_619639.3:p.Pro676Arg
  • NP_619639.3:p.Pro676Arg
  • NP_733842.2:p.Pro676Arg
  • NC_000006.11:g.51917987G>C
  • NM_138694.3:c.2027C>G
Protein change:
P676R
Links:
dbSNP: rs115045643
NCBI 1000 Genomes Browser:
rs115045643
Molecular consequence:
  • NM_138694.4:c.2027C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170724.3:c.2027C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000114575EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Apr 15, 2013)
germlineclinical testing

Citation Link,

SCV000315782PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not 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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000114575.8

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

From PreventionGenetics,PreventionGenetics, SCV000315782.1

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

Last Updated: Nov 20, 2021

Support Center