NM_000181.4(GUSB):c.1790-4G>T AND Mucopolysaccharidosis type 7

Clinical significance:Likely benign (Last evaluated: Jul 24, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001430924.1

Allele description [Variation Report for NM_000181.4(GUSB):c.1790-4G>T]

NM_000181.4(GUSB):c.1790-4G>T

Gene:
GUSB:glucuronidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_000181.4(GUSB):c.1790-4G>T
HGVS:
  • NC_000007.14:g.65961067C>A
  • NG_016197.1:g.26248G>T
  • NG_051954.1:g.92969C>A
  • NM_000181.4:c.1790-4G>TMANE SELECT
  • NM_001284290.2:c.1352-4G>T
  • NM_001293104.2:c.1220-4G>T
  • NM_001293105.2:c.1133-4G>T
  • NC_000007.13:g.65426054C>A
  • NM_000181.3:c.1790-4G>T
Links:
dbSNP: rs879010457
NCBI 1000 Genomes Browser:
rs879010457
Molecular consequence:
  • NM_000181.4:c.1790-4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001284290.2:c.1352-4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293104.2:c.1220-4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293105.2:c.1133-4G>T - intron variant - [Sequence Ontology: SO:0001627]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001633673Invitaecriteria provided, single submitter
Likely benign
(Jul 24, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001633673.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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