NG_005905.2:g.(?_92501)_(92714_93868)del AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 2, 2015
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:: RCV000414085.3

Allele description [Variation Report for NG_005905.2:g.(?_92501)_(92714_93868)del]

NG_005905.2:g.(?_92501)_(92714_93868)del

Genes:

LOC111589215:BRCA1 promoter region [Gene]
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NG_005905.2:g.(?_92501)_(92714_93868)del

HGVS:

NC_000017.11:g.(43124116_43125270)_(43125483_?)del
NG_005905.2:g.(?_92501)_(92714_93868)del
LRG_292:g.(?_92501)_(92714_93868)del
NC_000017.10:g.(41276133_41277287)_(41277500_?)del
NM_007294.3:c.(?_-232)_(-20+1_-19-1)del

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Recent activity

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Metagenome or environmental sample from Ignavibacteria bacterium RIFOXYA2_FULL_3...
Metagenome or environmental sample from Ignavibacteria bacterium RIFOXYA2_FULL_35_9

biosample
txid1326615[Organism:noexp] (1)
Identical Protein Groups
txid1352[orgn] AND "isolate V305"[All Fields] (1)
SRA
TPA_asm: Enterococcus faecium isolate UW13724, whole genome shotgun sequencing p...
TPA_asm: Enterococcus faecium isolate UW13724, whole genome shotgun sequencing project
gi|1931126843|tpg|DACCYG000000000.1 YG010000000

Nucleotide
MAG: Candidatus Magasanikbacteria bacterium RIFOXYD2_FULL_39_9, whole genome sho...
MAG: Candidatus Magasanikbacteria bacterium RIFOXYD2_FULL_39_9, whole genome shotgun sequencing project
gi|1083707887|gb|MFRD00000000.1|MFR 0000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000328489	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000328489

Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge

criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)

Pathogenic
(Oct 2, 2015)

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	not provided	2	not provided	not provided	not provided	clinical testing

Details of each submission

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000328489.3

#	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	unknown	not provided	not provided	not provided		not provided	not provided	2	not provided

Last Updated: Mar 30, 2024

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