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NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 7, 2014
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:
RCV000623507.1

Allele description

NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)

Gene:
GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
Other names:
p.Leu1168Glnfs*5
HGVS:
  • NC_000012.12:g.101753470GA[1]
  • NG_021243.1:g.82395TC[1]
  • NM_024312.5:c.3503_3504delMANE SELECT
  • NP_077288.2:p.Leu1168fs
  • NC_000012.11:g.102147248GA[1]
  • NC_000012.11:g.102147250_102147251delGA
  • NM_024312.4:c.3503_3504del
  • NM_024312.4:c.3503_3504delTC
  • NM_024312.5:c.3503_3504delTCMANE SELECT
Nucleotide change:
AY687932:c.3503_3504delTC
Protein change:
L1168fs
Links:
OMIM: 607840.0011; dbSNP: rs34002892
NCBI 1000 Genomes Browser:
rs34002892
Molecular consequence:
  • NM_024312.5:c.3503_3504del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
Unknown function
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741655Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method)		Pathogenic
(Sep 7, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741655.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2022