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NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 23, 2013
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:
RCV000078456.15

Allele description [Variation Report for NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)]

NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)

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.2209C>A (p.Arg737Ser)
HGVS:
  • NC_000017.11:g.42544215C>A
  • NG_011552.1:g.13283C>A
  • NM_000263.4:c.2209C>AMANE SELECT
  • NP_000254.2:p.Arg737Ser
  • NP_000254.2:p.Arg737Ser
  • NC_000017.10:g.40696233C>A
  • NM_000263.3:c.2209C>A
Protein change:
R737S
Links:
dbSNP: rs86312
NCBI 1000 Genomes Browser:
rs86312
Molecular consequence:
  • NM_000263.4:c.2209C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000110312Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Jan 23, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110312.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

Last Updated: Oct 26, 2024