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NM_000465.4(BARD1):c.2279C>T (p.Ser760Leu) AND not provided

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:
RCV001356018.2

Allele description [Variation Report for NM_000465.4(BARD1):c.2279C>T (p.Ser760Leu)]

NM_000465.4(BARD1):c.2279C>T (p.Ser760Leu)

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.2279C>T (p.Ser760Leu)
HGVS:
  • NC_000002.12:g.214728731G>A
  • NG_012047.3:g.85981C>T
  • NM_000465.4:c.2279C>TMANE SELECT
  • NM_001282543.2:c.2222C>T
  • NM_001282545.2:c.926C>T
  • NM_001282548.2:c.869C>T
  • NM_001282549.2:c.740C>T
  • NP_000456.2:p.Ser760Leu
  • NP_001269472.1:p.Ser741Leu
  • NP_001269474.1:p.Ser309Leu
  • NP_001269477.1:p.Ser290Leu
  • NP_001269478.1:p.Ser247Leu
  • LRG_297t1:c.2279C>T
  • LRG_297:g.85981C>T
  • LRG_297p1:p.Ser760Leu
  • NC_000002.11:g.215593455G>A
  • NG_012047.2:g.85974C>T
  • NM_000465.2:c.2279C>T
  • NM_000465.3:c.2279C>T
  • NR_104212.2:n.2244C>T
  • NR_104215.2:n.2187C>T
  • NR_104216.2:n.1443C>T
Protein change:
S247L
Links:
dbSNP: rs730881425
NCBI 1000 Genomes Browser:
rs730881425
Molecular consequence:
  • NM_000465.4:c.2279C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282545.2:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282548.2:c.869C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282549.2:c.740C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.2244C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.2187C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104216.2:n.1443C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001551069Department 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), SCV001551069.1

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

Description

The BARD1 p.Ser760Leu variant was identified in 1 of 2594 proband chromosomes (frequency: 0.0004) from individuals or families with early-onset breast cancer (Young 2016). The variant was also identified in the following databases: dbSNP (ID: rs730881425) as "With Uncertain significance allele", ClinVar (classified as uncertain significance by Ambry Geneics and Color), and in Cosmic (1x in oesophagus tissue). The variant was not identified in MutDB, or Zhejiang University, databases. The variant was identified in control databases in 4 of 245998 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Latino in 1 of 33570 chromosomes (freq: 0.00003), European in 3 of 111490 chromosomes (freq: 0.00003); it was not observed in the African, Other, Ashkenazi Jewish, East Asian, Finnish, and South Asian populations. The p.Ser760 residue is conserved across mammals and other organisms, and 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 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. 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: Sep 29, 2024