NM_000059.4(BRCA2):c.8633-135del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 30, 2019
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:: RCV001591573.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.8633-135del]

NM_000059.4(BRCA2):c.8633-135del

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.8633-135del

HGVS:

NC_000013.11:g.32376535del
NG_012772.3:g.66056del
NM_000059.4:c.8633-135delMANE SELECT
LRG_293:g.66056del
NC_000013.10:g.32950672del

Links:

dbSNP: rs200156944

NCBI 1000 Genomes Browser:

rs200156944

Molecular consequence:

NM_000059.4:c.8633-135del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 [Homo sapiens]
ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 [Homo sapiens]
Gene ID:3700

Gene
Gene Links for GEO Profiles (Select 103254270) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001815560	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 30, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001815560

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 30, 2019)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001815560.1

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

Last Updated: Sep 1, 2024

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