NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs) AND Exostoses, multiple, type 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2022
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:: RCV002274278.1

Allele description [Variation Report for NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs)]

NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs)

Gene:

EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs)

HGVS:

NC_000011.10:g.44124954_44124955insGATGTCAGCATTCCTGTCTATAATCC
NG_007560.1:g.34406_34407insGATGTCAGCATTCCTGTCTATAATCC
NM_000401.3:c.1008_1009insGATGTCAGCATTCCTGTCTATAATCC
NM_001178083.3:c.909_910insGATGTCAGCATTCCTGTCTATAATCC
NM_001389628.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC
NM_001389630.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC
NM_207122.2:c.909_910insGATGTCAGCATTCCTGTCTATAATCCMANE SELECT
NP_000392.3:p.Gln337fs
NP_001171554.1:p.Gln304fs
NP_001376557.1:p.Gln304fs
NP_001376559.1:p.Gln304fs
NP_997005.1:p.Gln304fs
LRG_494t1:c.1008_1009insGATGTCAGCATTCCTGTCTATAATCC
LRG_494:g.34406_34407insGATGTCAGCATTCCTGTCTATAATCC
LRG_494p1:p.Gln337fs
NC_000011.9:g.44146504_44146505insGATGTCAGCATTCCTGTCTATAATCC

Protein change:

Q304fs

Links:

dbSNP: rs2135015566

NCBI 1000 Genomes Browser:

rs2135015566

Molecular consequence:

NM_000401.3:c.1008_1009insGATGTCAGCATTCCTGTCTATAATCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001178083.3:c.909_910insGATGTCAGCATTCCTGTCTATAATCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001389628.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001389630.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_207122.2:c.909_910insGATGTCAGCATTCCTGTCTATAATCC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Exostoses, multiple, type 2 (EXT2)
Synonyms:: EXOSTOSES, MULTIPLE, TYPE II
Identifiers:: MONDO: MONDO:0007586; MedGen: C1851413; Orphanet: 321; OMIM: 133701

Recent activity

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TPA: Homo sapiens microRNA hsa-mir-99b precursor
TPA: Homo sapiens microRNA hsa-mir-99b precursor
gi|667478445|tpe|LM608673.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002558835	Institute of Human Genetics, Cologne University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 1, 2022)	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

SCV002558835

Institute of Human Genetics, Cologne University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 1, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Institute of Human Genetics, Cologne University, SCV002558835.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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