NM_000521.3(HEXB):c.115delG (p.Val39Trpfs) AND not provided

replaced

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 14, 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:: RCV000079054.3

Allele description

NM_000521.3(HEXB):c.115delG (p.Val39Trpfs)

Gene:

HEXB:hexosaminidase subunit beta [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q13.3

Genomic location:

Preferred name:

NM_000521.3(HEXB):c.115delG (p.Val39Trpfs)

HGVS:

NC_000005.10:g.74685375delG
NG_009770.2:g.50353delG
NM_000521.3:c.115delG
NM_001292004.1:c.-376-3953delG
NP_000512.1:p.Val39Trpfs
NC_000005.9:g.73981200delG
NG_009770.1:g.5232delG

Links:

dbSNP: rs398123443

NCBI 1000 Genomes Browser:

rs398123443

Molecular consequence:

NM_000521.3:c.115delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001292004.1:c.-376-3953delG - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

Recent activity

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CK377643 (0)
GEO Profiles
preimmunoglobulin heavy chain binding protein [Rattus norvegicus]
preimmunoglobulin heavy chain binding protein [Rattus norvegicus]
gi|203151|gb|AAA40817.1|

Protein
Ap3m2 adaptor-related protein complex 3, mu 2 subunit [Mus musculus]
Ap3m2 adaptor-related protein complex 3, mu 2 subunit [Mus musculus]
Gene ID:64933

Gene
64933[uid] AND (alive[prop]) (1)
Gene
EST378366 MAGE resequences, MAGI Homo sapiens cDNA, mRNA sequence
EST378366 MAGE resequences, MAGI Homo sapiens cDNA, mRNA sequence
gi|8156129|gnl|dbEST|4471787|gb|AW9 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000110923	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	no assertion criteria provided	Pathogenic (Mar 14, 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

SCV000110923

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

no assertion criteria provided

Pathogenic
(Mar 14, 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	8	not provided	not provided	149	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 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000110923.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	8	not provided	not provided	clinical testing (GTR000501656)	PubMed (1)
2	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	149	not provided	not provided	(GTR000501656)	8	not provided	not provided	not provided
2	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided

Last Updated: Feb 13, 2018

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