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NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 15, 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:
RCV001526799.3

Allele description [Variation Report for NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)]

NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)

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.841C>T (p.Pro281Ser)
Other names:
p.P281S:CCA>TCA
HGVS:
  • NC_000002.12:g.214781033G>A
  • NG_012047.3:g.33679C>T
  • NM_000465.4:c.841C>TMANE SELECT
  • NM_001282543.2:c.784C>T
  • NM_001282545.2:c.215+16028C>T
  • NM_001282548.2:c.158+28379C>T
  • NM_001282549.2:c.364+11264C>T
  • NP_000456.2:p.Pro281Ser
  • NP_001269472.1:p.Pro262Ser
  • LRG_297t1:c.841C>T
  • LRG_297:g.33679C>T
  • LRG_297p1:p.Pro281Ser
  • NC_000002.11:g.215645757G>A
  • NG_012047.2:g.33672C>T
  • NM_000465.2:c.841C>T
  • NM_000465.3:c.841C>T
  • NR_104212.2:n.806C>T
  • NR_104215.2:n.749C>T
Protein change:
P262S
Links:
dbSNP: rs200059956
NCBI 1000 Genomes Browser:
rs200059956
Molecular consequence:
  • NM_001282545.2:c.215+16028C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28379C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+11264C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.4:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.784C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.806C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.749C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001737421St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Apr 15, 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, SCV001737421.1

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

Description

The BARD1 c.841C>T (p.Pro281Ser) missense change has a maximum subpopulation frequency of 0.0036% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/2-215645757-G-A?dataset=gnomad_r2_1). It is absent in a database of women older than 70 years of age who have never had cancer (https://whi.color.com/). Five of seven in silico tools predict a benign effect of this variant on protein function (BP4), but these predictions have not been confirmed by functional studies. This variant has been reported in individuals with breast cancer, colorectal cancer, and suspected Lynch syndrome (PMID: 26976419, 27978560, 25980754). In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP4.

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

Last Updated: Sep 29, 2024