NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs) AND Mucopolysaccharidosis type 7

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003986019.1

Allele description [Variation Report for NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs)]

NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs)

Gene:

GUSB:glucuronidase beta [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7q11.21

Genomic location:

Preferred name:

NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs)

HGVS:

NC_000007.14:g.65961053TC[1]
NG_016197.1:g.26260AG[1]
NG_051954.1:g.92955TC[1]
NG_051954.2:g.100283TC[1]
NM_000181.4:c.1800_1801delMANE SELECT
NM_001284290.2:c.1362_1363del
NM_001293104.2:c.1230_1231del
NM_001293105.2:c.1143_1144del
NP_000172.2:p.Arg600fs
NP_001271219.1:p.Arg454fs
NP_001280033.1:p.Arg410fs
NP_001280034.1:p.Arg381fs
NC_000007.13:g.65426040TC[1]
NR_120531.2:n.1743AG[1]

Protein change:

R381fs

Molecular consequence:

NM_000181.4:c.1800_1801del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001284290.2:c.1362_1363del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293104.2:c.1230_1231del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293105.2:c.1143_1144del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_120531.2:n.1743AG[1] - 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
SCV004801851	Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	maternal	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

SCV004801851

Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

maternal

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	maternal	yes	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 Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, SCV004801851.1

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

Description

A previously undescribed nucleotide variant creates a frameshift p.Arg600SerfsTer5 in the GUSB gene. The variant was observed in compound heterozygous state (inherited from mother according to WES trio) with another likely pathogenic variant in an individual affected with hydrops fetalis. Homozygous and compound heterozygous variants are reported in patients with Mucopolysaccharidosis VII, 253220. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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

Last Updated: Mar 30, 2024

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