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NM_007214.5(SEC63):c.*3480dup AND Polycystic liver disease 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000402695.5

Allele description [Variation Report for NM_007214.5(SEC63):c.*3480dup]

NM_007214.5(SEC63):c.*3480dup

Gene:
SEC63:SEC63 homolog, protein translocation regulator [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_007214.5(SEC63):c.*3480dup
HGVS:
  • NC_000006.12:g.107868236dup
  • NG_008270.1:g.95055dup
  • NM_007214.5:c.*3480dupMANE SELECT
  • NC_000006.11:g.108189440dup
  • NM_007214.4:c.*3480dupT
Links:
dbSNP: rs56104837
NCBI 1000 Genomes Browser:
rs56104837
Molecular consequence:
  • NM_007214.5:c.*3480dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000459370Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000459370.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023