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NM_000465.4(BARD1):c.111T>A (p.Ser37Arg) AND Malignant tumor of breast

Germline classification:
Uncertain significance (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:
RCV001357501.2

Allele description [Variation Report for NM_000465.4(BARD1):c.111T>A (p.Ser37Arg)]

NM_000465.4(BARD1):c.111T>A (p.Ser37Arg)

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.111T>A (p.Ser37Arg)
HGVS:
  • NC_000002.12:g.214809459A>T
  • NG_012047.3:g.5253T>A
  • NM_000465.4:c.111T>AMANE SELECT
  • NM_001282543.2:c.111T>A
  • NM_001282545.2:c.111T>A
  • NM_001282548.2:c.111T>A
  • NM_001282549.2:c.111T>A
  • NP_000456.2:p.Ser37Arg
  • NP_001269472.1:p.Ser37Arg
  • NP_001269474.1:p.Ser37Arg
  • NP_001269477.1:p.Ser37Arg
  • NP_001269478.1:p.Ser37Arg
  • LRG_297t1:c.111T>A
  • LRG_297:g.5253T>A
  • LRG_297p1:p.Ser37Arg
  • NC_000002.11:g.215674183A>T
  • NR_104212.2:n.225T>A
  • NR_104215.2:n.225T>A
  • NR_104216.2:n.225T>A
Protein change:
S37R
Links:
dbSNP: rs2106171106
NCBI 1000 Genomes Browser:
rs2106171106
Molecular consequence:
  • NM_000465.4:c.111T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.111T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282545.2:c.111T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282548.2:c.111T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282549.2:c.111T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.225T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.225T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104216.2:n.225T>A - 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
SCV001552987Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical 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), SCV001552987.1

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

Description

The BARD1 p.Ser37Arg variant was not identified in the literature nor was it identified in the following databases: dbSNP, ClinVar, Cosmic, MutDB, Zhejiang Colon Cancer Database, databases, the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Ser37 residue is conserved in mammals but not in more distantly related organisms, and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: Dec 24, 2023