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NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) AND Mucopolysaccharidosis, MPS-III-B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 13, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001274193.1

Allele description [Variation Report for NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)]

NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)

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.1797C>G (p.Ala599=)
HGVS:
  • NC_000017.11:g.42543803C>G
  • NG_011552.1:g.12871C>G
  • NM_000263.4:c.1797C>GMANE SELECT
  • NP_000254.2:p.Ala599=
  • NC_000017.10:g.40695821C>G
  • NM_000263.3:c.1797C>G
Links:
dbSNP: rs146715254
NCBI 1000 Genomes Browser:
rs146715254
Molecular consequence:
  • NM_000263.4:c.1797C>G - 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

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001458036Natera, Inc.
    no assertion criteria provided
    		Uncertain significance
    (Feb 13, 2020)     		germlineclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Natera, Inc., SCV001458036.1

    #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: Sep 29, 2024