U.S. flag

An official website of the United States government

NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 1, 2023
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:
RCV003431134.10

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]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV004163602CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(Jan 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004163602.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PKHD1: BP4, BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024