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NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) AND Polycystic kidney disease 4

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 18, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001449937.2

Allele description [Variation Report for NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)]

NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)

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.2168G>T (p.Arg723Leu)
HGVS:
  • NC_000006.12:g.52050268C>A
  • NG_008753.1:g.42358G>T
  • NM_138694.4:c.2168G>TMANE SELECT
  • NM_170724.3:c.2168G>T
  • NP_619639.3:p.Arg723Leu
  • NP_733842.2:p.Arg723Leu
  • NC_000006.11:g.51915066C>A
  • NM_138694.3:c.2168G>T
Protein change:
R723L
Links:
dbSNP: rs150597050
NCBI 1000 Genomes Browser:
rs150597050
Molecular consequence:
  • NM_138694.4:c.2168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170724.3:c.2168G>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; PKD3
Identifiers:
MONDO: MONDO:0033004; MedGen: C4540575; OMIM: 263200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001653391Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(May 18, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001653391.1

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

Last Updated: Oct 20, 2024