NM_007294.3(BRCA1):c.135-?_441+?del AND Familial cancer of breast

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000074566.1

Allele description [Variation Report for NM_007294.3(BRCA1):c.135-?_441+?del]

Gene:
BRCA1:breast cancer 1, early onset [Gene - OMIM]
Variant type:
Deletion
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.135-?_441+?del
Other names:
Deletion Exons 4-6
HGVS:
  • NC_000017.11:g.(?_43104122)_(43106533_?)del
  • NM_007294.3:c.135-?_441+?del
  • LRG_292t1:c.135-?_441+?del

Condition(s)

Name:
Familial cancer of breast
Synonyms:
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer; breast carcinoma
Identifiers:
MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000108651GeneDxclassified by single submitterPathogenicgermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000108651.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

whole or partial BRCA1 and BRCA2 large deletions and duplications have been reported in approximately 6-10% of individuals with BRCA-associated Hereditary Breast and Ovarian Cancer (Judkins 2012)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 19, 2014

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