NM_017739.4(POMGNT1):c.92dup (p.Asn31fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 11, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000081806.6

Allele description [Variation Report for NM_017739.4(POMGNT1):c.92dup (p.Asn31fs)]

NM_017739.4(POMGNT1):c.92dup (p.Asn31fs)

Gene:

POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_017739.4(POMGNT1):c.92dup (p.Asn31fs)

HGVS:

NC_000001.11:g.46197732dup
NG_009205.3:g.27576dup
NM_001243766.2:c.92dup
NM_017739.4:c.92dupMANE SELECT
NP_001230695.2:p.Asn31fs
NP_060209.4:p.Asn31fs
LRG_701t1:c.92dup
LRG_701t2:c.92dup
LRG_701:g.27576dup
LRG_701p1:p.Asn31fs
LRG_701p2:p.Asn31fs
NC_000001.10:g.46663404dup
NG_009205.2:g.27576dup
NM_017739.3:c.92dupA

Protein change:

N31fs

Links:

dbSNP: rs398124310

NCBI 1000 Genomes Browser:

rs398124310

Molecular consequence:

NM_001243766.2:c.92dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017739.4:c.92dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000113741	Eurofins Ntd Llc (ga)	no assertion criteria provided	Pathogenic (Jun 11, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000113741

Eurofins Ntd Llc (ga)

no assertion criteria provided

Pathogenic
(Jun 11, 2013)

germline

clinical testing

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	germline	unknown	1	not provided	not provided	211	not provided	clinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]

PMID:: 23757202

Details of each submission

From Eurofins Ntd Llc (ga), SCV000113741.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	0	not provided	not provided	clinical testing (GTR000502399)	PubMed (1)
2	not provided	0	not provided	not provided	clinical testing	PubMed (1)
3	not provided	0	not provided	not provided	clinical testing	PubMed (1)
4	not provided	0	not provided	not provided	clinical testing	PubMed (1)
5	not provided	0	not provided	not provided	clinical testing	PubMed (1)
6	not provided	0	not provided	not provided	clinical testing	PubMed (1)
7	not provided	0	not provided	not provided	clinical testing	PubMed (1)
8	not provided	0	not provided	not provided	clinical testing	PubMed (1)
9	not provided	0	not provided	not provided	clinical testing	PubMed (1)
10	not provided	1	not provided	not provided	clinical testing	PubMed (1)
11	not provided	0	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	26	not provided	not provided	(GTR000502399)	0	not provided	not provided	not provided
2	germline	unknown	5	not provided	not provided		0	not provided	not provided	not provided
3	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
4	germline	unknown	2	not provided	not provided		0	not provided	not provided	not provided
5	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
6	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
7	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
8	germline	unknown	105	not provided	not provided		0	not provided	not provided	not provided
9	germline	unknown	13	not provided	not provided		0	not provided	not provided	not provided
10	germline	unknown	43	not provided	not provided		1	not provided	not provided	not provided
11	germline	unknown	17	not provided	not provided		0	not provided	not provided	not provided

Last Updated: Apr 1, 2023

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