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

Recent activity

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GSM3071445[Accession] (3)
GEO DataSets
basic immunoglobulin-like variable motif-containing protein isoform X3 [Mus musc...
basic immunoglobulin-like variable motif-containing protein isoform X3 [Mus musculus]
gi|1907069033|ref|XP_036021012.1|

Protein
Thamnophis sirtalis isolate H08819 35 G protein-coupled receptor 149 (R35) gene,...
Thamnophis sirtalis isolate H08819 35 G protein-coupled receptor 149 (R35) gene, partial cds
gi|984405670|gb|KT884231.1|

Nucleotide
cytochrome oxidase subunit II, partial (mitochondrion) [Apis mellifera lamarckii...
cytochrome oxidase subunit II, partial (mitochondrion) [Apis mellifera lamarckii]
gi|218684219|gb|ACL01060.1|

Protein
long-wavelength opsin, partial [Dryocosmus juliae]
long-wavelength opsin, partial [Dryocosmus juliae]
gi|1569273440|gb|QBB02601.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000459370	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000459370

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000459370.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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