NM_014028.3(OSTM1):c.415_416delAG (p.Gln140Glufs) AND Osteopetrosis, autosomal recessive 5

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 8, 2015
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:: RCV000175853.1

Allele description

NM_014028.3(OSTM1):c.415_416delAG (p.Gln140Glufs)

Gene:

OSTM1:osteoclastogenesis associated transmembrane protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q21

Genomic location:

Preferred name:

NM_014028.3(OSTM1):c.415_416delAG (p.Gln140Glufs)

HGVS:

NC_000006.12:g.108064286_108064287delCT
NG_007262.1:g.15451_15452delAG
NM_014028.3:c.415_416delAG
NP_054747.2:p.Gln140Glufs
NC_000006.11:g.108385490_108385491delCT

Links:

dbSNP: rs794727287

NCBI 1000 Genomes Browser:

rs794727287

Molecular consequence:

NM_014028.3:c.415_416delAG - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Osteopetrosis, autosomal recessive 5 (OPTB5)
Identifiers:: MedGen: C1968603; Orphanet: 85179; OMIM: 259720

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000227422	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Jun 8, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000227422

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Jun 8, 2015)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

Van Goor F, Yu H, Burton B, Hoffman BJ.

J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23.

PubMed [citation]

PMID:: 23891399

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000227422.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Sep 13, 2018

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