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NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) AND PKHD1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004748752.1

Allele description [Variation Report for NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)]

NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)

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.5912G>A (p.Gly1971Asp)
HGVS:
  • NC_000006.12:g.51934319C>T
  • NG_008753.1:g.158307G>A
  • NM_138694.4:c.5912G>AMANE SELECT
  • NM_170724.3:c.5912G>A
  • NP_619639.3:p.Gly1971Asp
  • NP_733842.2:p.Gly1971Asp
  • NC_000006.11:g.51799117C>T
  • NM_138694.3:c.5912G>A
Protein change:
G1971D
Links:
dbSNP: rs180675584
NCBI 1000 Genomes Browser:
rs180675584
Molecular consequence:
  • NM_138694.4:c.5912G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170724.3:c.5912G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PKHD1-related disorder
Synonyms:
PKHD1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005355964PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(May 4, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005355964.1

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

Description

The PKHD1 c.5912G>A variant is predicted to result in the amino acid substitution p.Gly1971Asp. This variant has been repeatedly reported to be pathogenic for autosomal recessive polycystic kidney disease (ARPKD) (see for example, Bergmann et al. 2011. PubMed ID: 22034641; Furu et al. 2003. PubMed ID: 12874454; Sharp et al. 2005. PubMed ID: 15805161). This variant is reported in 0.009% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024