NM_007214.4(SEC63):c.*3959dupT AND Polycystic liver disease 1

Germline classification:: Benign (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:: RCV000307781.5

Allele description [Variation Report for NM_007214.4(SEC63):c.*3959dupT]

NM_007214.4(SEC63):c.*3959dupT

Gene:

SEC63:SEC63 homolog, protein translocation regulator [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6q21

Genomic location:

Preferred name:

NM_007214.4(SEC63):c.*3959dupT

HGVS:

NC_000006.12:g.107867755dup
NG_008270.1:g.95534dup
NC_000006.11:g.108188959dup

Links:

dbSNP: rs112734053

NCBI 1000 Genomes Browser:

rs112734053

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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AV376910 RIKEN full-length enriched, adult male cecum Mus musculus cDNA clone 91...
AV376910 RIKEN full-length enriched, adult male cecum Mus musculus cDNA clone 9130218M03 3', mRNA sequence
gi|16398092|gnl|dbEST|9994027|dbj|A 10.2|

Nucleotide
K0749H07-3 NIA Mouse Hematopoietic Stem Cell (Lin-/c-Kit-/Sca-1-) cDNA Library (...
K0749H07-3 NIA Mouse Hematopoietic Stem Cell (Lin-/c-Kit-/Sca-1-) cDNA Library (Long) Mus musculus cDNA clone NIA:K0749H07 IMAGE:30078330 3', mRNA sequence
gi|31502090|gnl|dbEST|18581182|gb|B 06.2|

Nucleotide
BB268577 RIKEN full-length enriched, 10 days neonate cortex Mus musculus cDNA cl...
BB268577 RIKEN full-length enriched, 10 days neonate cortex Mus musculus cDNA clone A830035N18 3', mRNA sequence
gi|16400501|gnl|dbEST|9996436|dbj|B 77.2|

Nucleotide
BB392250 RIKEN full-length enriched, 0 day neonate cerebellum Mus musculus cDNA ...
BB392250 RIKEN full-length enriched, 0 day neonate cerebellum Mus musculus cDNA clone C230078I21 3', mRNA sequence
gi|16409014|gnl|dbEST|10004891|dbj| 250.2|

Nucleotide
PWK_PhJ
PWK_PhJ

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000484177	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (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

SCV000484177

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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, SCV000484177.2

#	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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