NM_000816.3(GABRG2):c.1113_1115delAAA (p.Lys374del) AND not provided

replaced

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 3, 2014
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:: RCV000153294.3

Allele description

NM_000816.3(GABRG2):c.1113_1115delAAA (p.Lys374del)

Gene:

GABRG2:gamma-aminobutyric acid type A receptor gamma2 subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q34

Genomic location:

Preferred name:

NM_000816.3(GABRG2):c.1113_1115delAAA (p.Lys374del)

HGVS:

NC_000005.10:g.162149298_162149300delAAA
NG_009290.1:g.86657_86659delAAA
NM_000816.3:c.1113_1115delAAA
NM_198903.2:c.1233_1235delAAA
NP_000807.2:p.Lys374del
NP_944493.2:p.Lys414del
NC_000005.9:g.161576304_161576306delAAA
p.K374del

Protein change:

K374del

Links:

dbSNP: rs727503941

NCBI 1000 Genomes Browser:

rs727503941

Molecular consequence:

NM_198903.2:c.1233_1235delAAA - inframe_variant - [Sequence Ontology: SO:0001650]

Observations:

Condition(s)

Identifiers:: MedGen: CN221809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000202771	Emory Genetics Laboratory,Emory University	criteria provided, single submitter (EGL Classification Definitions)	Uncertain significance (Apr 3, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000202771

Emory Genetics Laboratory,Emory University

criteria provided, single submitter

(EGL Classification Definitions)

Uncertain significance
(Apr 3, 2014)

germline

clinical testing

Citation Link

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	not provided	not provided	clinical testing

Details of each submission

From Emory Genetics Laboratory,Emory University, SCV000202771.3

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

#	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		1	not provided	not provided	not provided

Last Updated: Nov 26, 2016

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