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NM_000465.4(BARD1):c.216-3A>T AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 29, 2021
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:
RCV002254852.4

Allele description [Variation Report for NM_000465.4(BARD1):c.216-3A>T]

NM_000465.4(BARD1):c.216-3A>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.216-3A>T
HGVS:
  • NC_000002.12:g.214792448T>A
  • NG_012047.3:g.22264A>T
  • NM_000465.4:c.216-3A>TMANE SELECT
  • NM_001282543.2:c.159-3A>T
  • NM_001282545.2:c.215+4613A>T
  • NM_001282548.2:c.158+16964A>T
  • NM_001282549.2:c.216-3A>T
  • LRG_297t1:c.216-3A>T
  • LRG_297:g.22264A>T
  • NC_000002.11:g.215657172T>A
  • NM_000465.3:c.216-3A>T
Links:
dbSNP: rs1329481396
NCBI 1000 Genomes Browser:
rs1329481396
Molecular consequence:
  • NM_000465.4:c.216-3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282543.2:c.159-3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282545.2:c.215+4613A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+16964A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.216-3A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002525993St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Dec 29, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV002525993.2

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

Description

The BARD1 c.216-3A>T intronic change results in a A to T substitution at the -3 position of intron 2 of BARD1 gene. This variant is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). Algorithms that predict the impact of sequence changes on splicing are not in agreement, but to our knowledge these predictions have not been confirmed by RNA studies. This variant is absent in a database of women older than 70 years of age who have never had cancer (https://whi.color.com/). To our knowledge, this variant has not been reported in individuals with HBOC. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting.

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

Last Updated: Jul 15, 2024