NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro) AND Autosomal dominant polycystic liver disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 1, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV001844958.1

Allele description [Variation Report for NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro)]

NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

Preferred name:

NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro)

HGVS:

NC_000006.12:g.107902929T>G
NG_008270.1:g.60350A>C
NM_007214.5:c.1124A>CMANE SELECT
NP_009145.1:p.Gln375Pro
NC_000006.11:g.108224133T>G

Protein change:

Q375P

Links:

dbSNP: rs1787041288

NCBI 1000 Genomes Browser:

rs1787041288

Molecular consequence:

NM_007214.5:c.1124A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant polycystic liver disease
Synonyms:: Isolated polycystic liver disease; Isolated autosomal dominant polycystic liver disease; Congenital cystic disease of liver; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0000447; MedGen: C0158683; OMIM: PS174050; Human Phenotype Ontology: HP:0006557

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001876890	Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center	no assertion criteria provided	Likely pathogenic (Sep 1, 2021)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001876890

Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center

no assertion criteria provided

Likely pathogenic
(Sep 1, 2021)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center, SCV001876890.1

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

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

Last Updated: Dec 24, 2023

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