NM_198334.3(GANAB):c.920C>G (p.Pro307Arg) AND Polycystic kidney disease 3 with or without polycystic liver disease

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 20, 2021
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:: RCV002487000.1

Allele description [Variation Report for NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)]

NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)

Gene:

GANAB:glucosidase II alpha subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

Preferred name:

NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)

HGVS:

NC_000011.10:g.62632641G>C
NG_053018.1:g.19086C>G
NM_001278192.2:c.644C>G
NM_001278193.2:c.578C>G
NM_001278194.2:c.629C>G
NM_001329222.2:c.629C>G
NM_001329223.2:c.629C>G
NM_001329224.2:c.197C>G
NM_001329225.2:c.197C>G
NM_198334.3:c.920C>GMANE SELECT
NM_198335.4:c.986C>G
NP_001265121.1:p.Pro215Arg
NP_001265122.1:p.Pro193Arg
NP_001265123.1:p.Pro210Arg
NP_001316151.1:p.Pro210Arg
NP_001316152.1:p.Pro210Arg
NP_001316153.1:p.Pro66Arg
NP_001316154.1:p.Pro66Arg
NP_938148.1:p.Pro307Arg
NP_938149.2:p.Pro329Arg
NC_000011.9:g.62400113G>C
NM_198335.2:c.986C>G
NM_198335.3:c.986C>G

Protein change:

P193R

Links:

dbSNP: rs201801499

NCBI 1000 Genomes Browser:

rs201801499

Molecular consequence:

NM_001278192.2:c.644C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001278193.2:c.578C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001278194.2:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001329222.2:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001329223.2:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001329224.2:c.197C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001329225.2:c.197C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198334.3:c.920C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198335.4:c.986C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Polycystic kidney disease 3 with or without polycystic liver disease
Synonyms:: POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III; Polycystic kidney disease 3
Identifiers:: MONDO: MONDO:0010916; MedGen: C3887964; OMIM: 600666

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002797484	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Dec 20, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002797484

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Dec 20, 2021)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002797484.1

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

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

Last Updated: Oct 13, 2024

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