NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) AND Mucopolysaccharidosis, MPS-III-B

Clinical significance:Benign (Last evaluated: Nov 11, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001274191.1

Allele description [Variation Report for NM_000263.4(NAGLU):c.1563G>A (p.Pro521=)]

NM_000263.4(NAGLU):c.1563G>A (p.Pro521=)

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=)
HGVS:
  • NC_000017.11:g.42543569G>A
  • NG_011552.1:g.12637G>A
  • NM_000263.4:c.1563G>AMANE SELECT
  • NP_000254.2:p.Pro521=
  • NC_000017.10:g.40695587G>A
  • NM_000263.3:c.1563G>A
Links:
dbSNP: rs61737297
NCBI 1000 Genomes Browser:
rs61737297
Molecular consequence:
  • NM_000263.4:c.1563G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-B (MPS3B)
Synonyms:
NAGLU DEFICIENCY; Mucopoly-saccharidosis type 3B; Sanfilippo syndrome B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009656; MedGen: C0086648; OMIM: 252920

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001458034Natera, Inc.no assertion criteria providedBenign
(Nov 11, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001458034.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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