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NM_000465.4(BARD1):c.365-7C>T AND Malignant tumor of breast

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001356627.3

Allele description [Variation Report for NM_000465.4(BARD1):c.365-7C>T]

NM_000465.4(BARD1):c.365-7C>T

Gene:
BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000465.4(BARD1):c.365-7C>T
HGVS:
  • NC_000002.12:g.214781516G>A
  • NG_012047.3:g.33196C>T
  • NM_000465.4:c.365-7C>TMANE SELECT
  • NM_001282543.2:c.308-7C>T
  • NM_001282545.2:c.215+15545C>T
  • NM_001282548.2:c.158+27896C>T
  • NM_001282549.2:c.364+10781C>T
  • LRG_297t1:c.365-7C>T
  • LRG_297:g.33196C>T
  • NC_000002.11:g.215646240G>A
  • NG_012047.2:g.33189C>T
  • NM_000465.2:c.365-7C>T
  • NM_000465.3:c.365-7C>T
Links:
dbSNP: rs745929983
NCBI 1000 Genomes Browser:
rs745929983
Molecular consequence:
  • NM_000465.4:c.365-7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282543.2:c.308-7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282545.2:c.215+15545C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+27896C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+10781C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001551848Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Likely benignunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001551848.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BARD1 c.365-7C>T variant was identified in 1 of 392 proband chromosomes (frequency: 0.003) from individuals or families with breast cancer (De Brakeleer 2010). The variant was identified in dbSNP (rs745929983) as “with likely benign allele” and ClinVar (classified as likely benign by Invitae, Color, GeneDx and Quest Diagnostics). The variant was identified in control databases in 10 of 269,488 chromosomes at a frequency of 0.00004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Other in 1 of 6824 chromosomes (freq: 0.0001), Latino in 2 of 33,564 chromosomes (freq: 0.00006), European in 6 of 123,604 chromosomes (freq: 0.00005), and African in 1 of 23,536 chromosomes (freq: 0.00004), while it was not observed in the Ashkenazi Jewish, East Asian, Finnish or South Asian populations. The variant occurs at a non-highly conserved nucleotide outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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

Last Updated: Sep 29, 2024