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NM_000465.4(BARD1):c.977A>G (p.Asn326Ser) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 30, 2022
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:
RCV001030669.3

Allele description [Variation Report for NM_000465.4(BARD1):c.977A>G (p.Asn326Ser)]

NM_000465.4(BARD1):c.977A>G (p.Asn326Ser)

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.977A>G (p.Asn326Ser)
HGVS:
  • NC_000002.12:g.214780897T>C
  • NG_012047.3:g.33815A>G
  • NM_000465.4:c.977A>GMANE SELECT
  • NM_001282543.2:c.920A>G
  • NM_001282545.2:c.215+16164A>G
  • NM_001282548.2:c.159-28342A>G
  • NM_001282549.2:c.364+11400A>G
  • NP_000456.2:p.Asn326Ser
  • NP_001269472.1:p.Asn307Ser
  • LRG_297t1:c.977A>G
  • LRG_297:g.33815A>G
  • LRG_297p1:p.Asn326Ser
  • NC_000002.11:g.215645621T>C
  • NG_012047.2:g.33808A>G
  • NM_000465.2:c.977A>G
  • NM_000465.3:c.977A>G
  • NR_104212.2:n.942A>G
  • NR_104215.2:n.885A>G
Protein change:
N307S
Links:
dbSNP: rs779960429
NCBI 1000 Genomes Browser:
rs779960429
Molecular consequence:
  • NM_001282545.2:c.215+16164A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.159-28342A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+11400A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.4:c.977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.942A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.885A>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001193497Cancer Genomics Group, Japanese Foundation For Cancer Research
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Mar 30, 2022) 		germlineresearch

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

Ramus SJ, Song H, Dicks E, Tyrer JP, Rosenthal AN, Intermaggio MP, Fraser L, Gentry-Maharaj A, Hayward J, Philpott S, Anderson C, Edlund CK, Conti D, Harrington P, Barrowdale D, Bowtell DD, Alsop K, Mitchell G; AOCS Study Group., Cicek MS, Cunningham JM, Fridley BL, et al.

J Natl Cancer Inst. 2015 Aug 27;107(11). doi:pii: djv214. 10.1093/jnci/djv214. Print 2015 Nov.

PubMed [citation]
PMID:
26315354
PMCID:
PMC4643629

Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.

Adamovich AI, Banerjee T, Wingo M, Duncan K, Ning J, Martins Rodrigues F, Huang KL, Lee C, Chen F, Ding L, Parvin JD.

PLoS Genet. 2019 Mar;15(3):e1008049. doi: 10.1371/journal.pgen.1008049.

PubMed [citation]
PMID:
30925164
PMCID:
PMC6457558
See all PubMed Citations (4)

Details of each submission

From Cancer Genomics Group, Japanese Foundation For Cancer Research, SCV001193497.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024