U.S. flag

An official website of the United States government

NM_024312.5(GNPTAB):c.1114-20_1114-19del AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 8, 2023
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:
RCV003788413.1

Allele description

NM_024312.5(GNPTAB):c.1114-20_1114-19del

Gene:
GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_024312.5(GNPTAB):c.1114-20_1114-19del
HGVS:
  • NC_000012.12:g.101770215_101770216del
  • NG_021243.1:g.65657_65658del
  • NM_024312.5:c.1114-20_1114-19delMANE SELECT
  • NC_000012.11:g.102163988_102163989del
  • NC_000012.11:g.102163993_102163994del
Molecular consequence:
  • NM_024312.5:c.1114-20_1114-19del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Mucolipidosis type II
Synonyms:
ML II ALPHA/BETA; I cell disease; Mucolipidosis 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009650; MedGen: C2673377; Orphanet: 576; OMIM: 252500
Name:
Pseudo-Hurler polydystrophy (ML3)
Synonyms:
ML III; ML III ALPHA/BETA; Mucolipidosis type 3A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018931; MedGen: C0033788; Orphanet: 577; OMIM: 252600

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004570031Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Aug 8, 2023)
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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004570031.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024