NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) AND Mucopolysaccharidosis type 7

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jan 16, 2024
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:: RCV000722000.9

Allele description [Variation Report for NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)]

NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)

Gene:

GUSB:glucuronidase beta [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

7q11.21

Genomic location:

Preferred name:

NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)

HGVS:

NC_000007.14:g.65960937_65960939dup
NG_016197.1:g.26378_26380dup
NG_051954.1:g.92839_92841dup
NM_000181.3:c.1916_1918dupTAG
NM_000181.4:c.1916_1918dupMANE SELECT
NM_001284290.2:c.1478_1480dup
NM_001293104.2:c.1346_1348dup
NM_001293105.2:c.1259_1261dup
NP_000172.2:p.Val639dup
NP_001271219.1:p.Val493dup
NP_001280033.1:p.Val449dup
NP_001280034.1:p.Val420dup
NC_000007.13:g.65425921_65425922insCTA
NC_000007.13:g.65425924_65425926dup
NM_001284290.1:c.1478_1480dup
NR_120531.2:n.1861_1863dup

Links:

dbSNP: rs770237165

NCBI 1000 Genomes Browser:

rs770237165

Molecular consequence:

NM_000181.4:c.1916_1918dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001284290.2:c.1478_1480dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001293104.2:c.1346_1348dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001293105.2:c.1259_1261dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_120531.2:n.1861_1863dup - 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
SCV000853164	SingHealth Duke-NUS Institute of Precision Medicine	no assertion criteria provided	Uncertain significance (Jun 7, 2017)	germline	curation
SCV002448523	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 16, 2024)	germline	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

SCV000853164

SingHealth Duke-NUS Institute of Precision Medicine

no assertion criteria provided

Uncertain significance
(Jun 7, 2017)

germline

curation

SCV002448523

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 16, 2024)

germline

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	no	not provided	not provided	not provided	not provided	not provided	curation
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From SingHealth Duke-NUS Institute of Precision Medicine, SCV000853164.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002448523.4

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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