NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Aug 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001240804.1

Allele description [Variation Report for NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla)]

NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla)

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla)
HGVS:
  • NC_000017.11:g.42536474_42536475insCCG
  • NG_011552.1:g.5542_5543insCCG
  • NM_000263.4:c.202_203insCCGMANE SELECT
  • NP_000254.2:p.Gly68_Gly69insAla
  • NC_000017.10:g.40688492_40688493insCCG
  • NM_000263.3:c.202_203insCCG
Links:
dbSNP: rs1469781984
NCBI 1000 Genomes Browser:
rs1469781984
Molecular consequence:
  • NM_000263.4:c.202_203insCCG - inframe_insertion - [Sequence Ontology: SO:0001821]

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
Name:
Charcot-Marie-Tooth disease, axonal type 2V (CMT2V)
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V
Identifiers:
MONDO: MONDO:0014665; MedGen: C4225306; Orphanet: 447964; OMIM: 616491

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001413779Invitaecriteria provided, single submitter
Uncertain significance
(Aug 9, 2019)
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, SCV001413779.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant, c.202_203insCCG, results in the insertion of 1 amino acid(s) to the NAGLU protein (p.Leu67_Gly68insAla), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with NAGLU-related conditions. ClinVar contains an entry for this variant (Variation ID: 551933). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 7, 2021

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