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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:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741425Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Apr 25, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741425.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 7, 2023