NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) AND GNPTG-mucolipidosis

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2016
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:: RCV000449610.3

Allele description [Variation Report for NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)]

NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)

Gene:

GNPTG:N-acetylglucosamine-1-phosphate transferase subunit gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)

Other names:

p.Trp108X

HGVS:

NC_000016.10:g.1362044G>A
NG_016985.1:g.15146G>A
NG_033129.1:g.57661C>T
NM_032520.5:c.324G>AMANE SELECT
NP_115909.1:p.Trp108Ter
NC_000016.9:g.1412045G>A
NM_032520.4:c.324G>A

Protein change:

W108*

Links:

dbSNP: rs1060499690

NCBI 1000 Genomes Browser:

rs1060499690

Molecular consequence:

NM_032520.5:c.324G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: GNPTG-mucolipidosis
Synonyms:: ML III GAMMA; ML IIIC; MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009652; MedGen: C1854896; Orphanet: 577; OMIM: 252605

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000537780	Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2016)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000537780

Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 1, 2016)

unknown

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	1	no	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS, SCV000537780.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	no	research	PubMed (1)

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

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1		yes

Last Updated: May 7, 2024

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