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NM_138694.3(PKHD1):c.5221G>A (p.Val1741Met)

Variation ID: Help
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_138694.3(PKHD1):c.5221G>A (p.Val1741Met)

Allele ID:
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
  • Chr6: 52024589 (on Assembly GRCh38)
  • Chr6: 51889387 (on Assembly GRCh37)
Protein change:
  • NG_008753.1:g.68037G>A
  • NM_138694.3:c.5221G>A
  • NP_619639.3:p.Val1741Met
  • NC_000006.12:g.52024589C>T (GRCh38)
  • NC_000006.11:g.51889387C>T (GRCh37)
  • P08F94:p.Val1741Met
NCBI 1000 Genomes Browser:
Molecular consequence:
NM_138694.3:c.5221G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00002
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
  • The Genome Aggregation Database (gnomAD) 0.00006
  • The Genome Aggregation Database (gnomAD), exomes 0.00003

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details


Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Mar 11, 2014)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000203273.7
Uncertain significance
(Aug 2, 2017)
criteria provided, single submitter
clinical testingunknownCounsylSCV000800567.1
(Mar 1, 2002)
no assertion criteria providedliterature onlygermlineOMIMSCV000024498.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided2germline, unknownnot providednot provided
Counsylnot providednot providedunknownnot providednot providednot provided
EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided2germlinenot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 9, 2019

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