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NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
May 5, 2023
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:
RCV003477529.1

Allele description [Variation Report for NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)]

NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)

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.722C>G (p.Ser241Cys)
Other names:
p.S241C:TCC>TGC
HGVS:
  • NC_000002.12:g.214781152G>C
  • NG_012047.3:g.33560C>G
  • NM_000465.4:c.722C>GMANE SELECT
  • NM_001282543.2:c.665C>G
  • NM_001282545.2:c.215+15909C>G
  • NM_001282548.2:c.158+28260C>G
  • NM_001282549.2:c.364+11145C>G
  • NP_000456.2:p.Ser241Cys
  • NP_001269472.1:p.Ser222Cys
  • LRG_297t1:c.722C>G
  • LRG_297:g.33560C>G
  • LRG_297p1:p.Ser241Cys
  • NC_000002.11:g.215645876G>C
  • NG_012047.2:g.33553C>G
  • NM_000465.2:c.722C>G
  • NM_000465.3:c.722C>G
  • NR_104212.2:n.687C>G
  • NR_104215.2:n.630C>G
  • Q99728:p.Ser241Cys
  • p.S241C
Protein change:
S222C
Links:
UniProtKB: Q99728#VAR_020109; dbSNP: rs3738885
NCBI 1000 Genomes Browser:
rs3738885
Molecular consequence:
  • NM_001282545.2:c.215+15909C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28260C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+11145C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.4:c.722C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.665C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.687C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.630C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000600204Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Benign
(May 5, 2023)
unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]
PMID:
33471991
PMCID:
PMC7611105

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC, Viana DV, Kitajima JPFW, Rocha VM, López RVM, Zheng Y, Freitas É, Monteiro FPM, Valim A, Schlesinger D, Kok F, Olopade OI, Folgueira MAAK.

Sci Rep. 2022 Mar 9;12(1):4190. doi: 10.1038/s41598-022-07383-1.

PubMed [citation]
PMID:
35264596
PMCID:
PMC8907244
See all PubMed Citations (5)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600204.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024