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NM_002335.4(LRP5):c.1360G>A (p.Val454Met) AND Polycystic liver disease 1

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000162092.1

Allele description [Variation Report for NM_002335.4(LRP5):c.1360G>A (p.Val454Met)]

NM_002335.4(LRP5):c.1360G>A (p.Val454Met)

Gene:
LRP5:LDL receptor related protein 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_002335.4(LRP5):c.1360G>A (p.Val454Met)
HGVS:
  • NC_000011.10:g.68386660G>A
  • NG_015835.2:g.79021G>A
  • NM_001291902.2:c.-406G>A
  • NM_002335.4:c.1360G>AMANE SELECT
  • NP_002326.2:p.Val454Met
  • NC_000011.9:g.68154128G>A
  • NG_015835.1:g.79021G>A
  • NM_002335.2:c.1360G>A
  • NM_002335.3:c.1360G>A
Protein change:
V454M; VAL454MET
Links:
OMIM: 603506.0036; dbSNP: rs373910016
NCBI 1000 Genomes Browser:
rs373910016
Molecular consequence:
  • NM_001291902.2:c.-406G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_002335.4:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Polycystic liver disease 1 (PCLD1)
Synonyms:
POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS
Identifiers:
MONDO: MONDO:0008265; MedGen: C0887850; Orphanet: 2924; OMIM: 174050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000212091Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center
no classification provided
not providedgermlinenot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providednot provided

Details of each submission

From Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center, SCV000212091.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024