NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs) AND Polycystic kidney disease 3 with or without polycystic liver disease

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 30, 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:: RCV000239562.6

Allele description [Variation Report for NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)]

NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11q12.3

Genomic location:

Preferred name:

NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)

HGVS:

NC_000011.10:g.62629281_62629282del
NG_053018.1:g.22445_22446del
NM_001278192.2:c.1572_1573del
NM_001278193.2:c.1506_1507del
NM_001278194.2:c.1557_1558del
NM_001329222.2:c.1557_1558del
NM_001329223.2:c.1557_1558del
NM_001329224.2:c.1125_1126del
NM_001329225.2:c.1125_1126del
NM_198334.3:c.1848_1849delMANE SELECT
NM_198335.4:c.1914_1915del
NP_001265121.1:p.Asp526fs
NP_001265122.1:p.Asp504fs
NP_001265123.1:p.Asp521fs
NP_001316151.1:p.Asp521fs
NP_001316152.1:p.Asp521fs
NP_001316153.1:p.Asp377fs
NP_001316154.1:p.Asp377fs
NP_938148.1:p.Asp618fs
NP_938149.2:p.Asp640fs
NC_000011.9:g.62396753_62396754del
NM_198335.3:c.1914_1915del
NM_198335.3:c.1914_1915delAG

Protein change:

D377fs

Links:

OMIM: 104160.0002; dbSNP: rs879255641

NCBI 1000 Genomes Browser:

rs879255641

Molecular consequence:

NM_001278192.2:c.1572_1573del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278193.2:c.1506_1507del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278194.2:c.1557_1558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329222.2:c.1557_1558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329223.2:c.1557_1558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329224.2:c.1125_1126del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329225.2:c.1125_1126del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198334.3:c.1848_1849del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198335.4:c.1914_1915del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000297927	OMIM	no assertion criteria provided	Pathogenic (Feb 22, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001752706	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 30, 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

SCV000297927

OMIM

no assertion criteria provided

Pathogenic
(Feb 22, 2018)

germline

literature only

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

SCV001752706

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 30, 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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet MP, Ferec C, et al.

Am J Hum Genet. 2016 Jun 2;98(6):1193-1207. doi: 10.1016/j.ajhg.2016.05.004.

PubMed [citation]

PMID:: 27259053
PMCID:: PMC4908191

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 OMIM, SCV000297927.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 4 members of 2 unrelated families (M641 and 290100) with polycystic kidney disease-3 with or without polycystic liver disease (PKD3; 600666), Porath et al. (2016) identified a heterozygous 2-bp deletion (c.1914_1915delAG, NM_198335.3) in the GANAB gene, resulting in a frameshift and premature termination (Asp640GlnfsTer77). The mutation, which was found by Sanger sequencing of the GANAB gene, was not found in the ExAC or Exome Variant Server databases.

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

From Fulgent Genetics, Fulgent Genetics, SCV001752706.1

#	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 8, 2024

ClinVar

Relating variation to medicine