NM_000181.4(GUSB):c.1834del (p.Gln612fs) AND Mucopolysaccharidosis type 7

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 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:: RCV000490365.1

Allele description [Variation Report for NM_000181.4(GUSB):c.1834del (p.Gln612fs)]

NM_000181.4(GUSB):c.1834del (p.Gln612fs)

Gene:

GUSB:glucuronidase beta [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q11.21

Genomic location:

Preferred name:

NM_000181.4(GUSB):c.1834del (p.Gln612fs)

HGVS:

NC_000007.14:g.65961019del
NG_016197.1:g.26296del
NG_051954.1:g.92921del
NM_000181.4:c.1834delMANE SELECT
NM_001284290.2:c.1396del
NM_001293104.2:c.1264del
NM_001293105.2:c.1177del
NP_000172.2:p.Gln612fs
NP_001271219.1:p.Gln466fs
NP_001280033.1:p.Gln422fs
NP_001280034.1:p.Gln393fs
NC_000007.13:g.65426006del
NM_000181.3:c.1834delC
NR_120531.2:n.1779del

Protein change:

Q393fs

Links:

dbSNP: rs1085307069

NCBI 1000 Genomes Browser:

rs1085307069

Molecular consequence:

NM_000181.4:c.1834del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001284290.2:c.1396del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293104.2:c.1264del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293105.2:c.1177del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_120531.2:n.1779del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Mucopolysaccharidosis type 7 (MPS7)
Synonyms:: MPS VII; Mucopolysaccharidosis type VII; MPS 7; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009662; MedGen: C0085132; Orphanet: 584; OMIM: 253220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267353	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 9490302, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267353

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
East Asian	germline	unknown	1	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W.

Hum Genet. 1998 Jan;102(1):69-78.

PubMed [citation]

PMID:: 9490302

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267353.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (2)

#	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		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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