NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln) AND Mucopolysaccharidosis, MPS-III-B

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 24, 2020
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:: RCV001593198.3

Allele description [Variation Report for NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)]

NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)

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.2159G>A (p.Arg720Gln)

HGVS:

NC_000017.11:g.42544165G>A
NG_011552.1:g.13233G>A
NM_000263.4:c.2159G>AMANE SELECT
NP_000254.2:p.Arg720Gln
NC_000017.10:g.40696183G>A
NC_000017.10:g.40696183G>A
NM_000263.3:c.2159G>A

Protein change:

R720Q

Links:

dbSNP: rs774971794

NCBI 1000 Genomes Browser:

rs774971794

Molecular consequence:

NM_000263.4:c.2159G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

Recent activity

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PC-esterase domain-containing protein 1A isoform 1 [Homo sapiens]
PC-esterase domain-containing protein 1A isoform 1 [Homo sapiens]
gi|21362096|ref|NP_073597.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001815767	New York Genome Center - CSER-NYCKidSeq	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (Jul 24, 2020)	germline	clinical testing	Citation Link,
SCV002093285	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jan 29, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001815767

New York Genome Center - CSER-NYCKidSeq

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(Jul 24, 2020)

germline

clinical testing

Citation Link,

SCV002093285

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jan 29, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001815767.1

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

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

From Natera, Inc., SCV002093285.1

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

#	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: Sep 29, 2024

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