NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 25, 2016
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:: RCV000623933.2

Allele description [Variation Report for NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn)]

NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn)

Gene:

GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.33

Genomic location:

Preferred name:

NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn)

HGVS:

NC_000001.11:g.1787341_1787343del
NG_047052.1:g.108775_108777del
NM_001282538.2:c.711_713del
NM_001282539.2:c.1011_1013del
NM_002074.5:c.1011_1013delMANE SELECT
NP_001269467.1:p.Lys237_Ile238delinsAsn
NP_001269468.1:p.Lys337_Ile338delinsAsn
NP_002065.1:p.Lys337_Ile338delinsAsn
NC_000001.10:g.1718780_1718782del
NM_002074.3:c.1011_1013delGAT

Links:

dbSNP: rs1553191393

NCBI 1000 Genomes Browser:

rs1553191393

Molecular consequence:

NM_001282538.2:c.711_713del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001282539.2:c.1011_1013del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_002074.5:c.1011_1013del - inframe_indel - [Sequence Ontology: SO:0001820]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741425	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Apr 25, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741425

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Apr 25, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000741425.3

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

Last Updated: Jan 7, 2023

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Relating variation to medicine