NM_007214.5(SEC63):c.340-9_340-7del 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:: RCV000352817.5

Allele description [Variation Report for NM_007214.5(SEC63):c.340-9_340-7del]

NM_007214.5(SEC63):c.340-9_340-7del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

6q21

Genomic location:

Preferred name:

NM_007214.5(SEC63):c.340-9_340-7del

HGVS:

NC_000006.12:g.107921918_107921920del
NG_008270.1:g.41361_41363del
NM_007214.5:c.340-9_340-7delMANE SELECT
NC_000006.11:g.108243120_108243122del
NC_000006.11:g.108243122_108243124del
NM_007214.4:c.340-9_340-7delTTT

Links:

dbSNP: rs66526324

NCBI 1000 Genomes Browser:

rs66526324

Molecular consequence:

NM_007214.5:c.340-9_340-7del - intron variant - [Sequence Ontology: SO:0001627]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000459466	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

SCV000459466

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

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, SCV000459466.2

#	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: Feb 28, 2024

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