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NM_000465.4(BARD1):c.216-29dup AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
May 27, 2020
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:
RCV002255681.2

Allele description [Variation Report for NM_000465.4(BARD1):c.216-29dup]

NM_000465.4(BARD1):c.216-29dup

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.216-29dup
HGVS:
  • NC_000002.12:g.214792474dup
  • NG_012047.3:g.22253dup
  • NM_000465.4:c.216-29dupMANE SELECT
  • NM_001282543.2:c.159-29dup
  • NM_001282545.2:c.215+4587dup
  • NM_001282548.2:c.158+16938dup
  • NM_001282549.2:c.216-29dup
  • LRG_297t1:c.216-29dup
  • LRG_297:g.22253dup
  • NC_000002.11:g.215657198dup
  • NM_000465.2:c.216-14_216-13insT
  • NM_000465.4:c.216-14dupTMANE SELECT
Links:
dbSNP: rs56130510
NCBI 1000 Genomes Browser:
rs56130510
Molecular consequence:
  • NM_000465.4:c.216-29dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282543.2:c.159-29dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282545.2:c.215+4587dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+16938dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.216-29dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002529581Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Benign
(May 27, 2020) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002529581.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023