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NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) AND Malignant tumor of breast

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535495.3

Allele description [Variation Report for NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)]

NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)

Gene:
BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
HGVS:
  • NC_000002.12:g.214730471_214730490dup
  • NG_012047.3:g.84235_84254dup
  • NM_000465.4:c.1935_1954dupMANE SELECT
  • NM_001282543.2:c.1878_1897dup
  • NM_001282545.2:c.582_601dup
  • NM_001282548.2:c.525_544dup
  • NM_001282549.2:c.396_415dup
  • NP_000456.2:p.Glu652fs
  • NP_001269472.1:p.Glu633fs
  • NP_001269474.1:p.Glu201fs
  • NP_001269477.1:p.Glu182fs
  • NP_001269478.1:p.Glu139fs
  • LRG_297t1:c.1935_1954dup
  • LRG_297:g.84235_84254dup
  • LRG_297p1:p.Glu652fs
  • NC_000002.11:g.215595181_215595182insCATACTTTTCTTCCTGTTCA
  • NC_000002.11:g.215595195_215595214dup
  • NG_012047.2:g.84228_84247dup
  • NM_000465.2:c.1935_1954dupTGAACAGGAAGAAAAGTATG
  • NM_000465.3:c.1935_1954dup20
  • NM_000465.3:c.1935_1954dupTGAACAGGAAGAAAAGTATG
  • NR_104212.2:n.1900_1919dup
  • NR_104215.2:n.1843_1862dup
  • NR_104216.2:n.1099_1118dup
  • p.E652VfsX69
  • p.Glu652ValfsX69
Protein change:
E139fs
Links:
dbSNP: rs587780024
NCBI 1000 Genomes Browser:
rs587780024
Molecular consequence:
  • NM_000465.4:c.1935_1954dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282543.2:c.1878_1897dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282545.2:c.582_601dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282548.2:c.525_544dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282549.2:c.396_415dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_104212.2:n.1900_1919dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.1843_1862dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104216.2:n.1099_1118dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749443GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749443.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 09-21-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024