NM_007294.3(BRCA1):c.5467+8G>A AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Likely benign (Last evaluated: Nov 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001089242.2

Allele description [Variation Report for NM_007294.3(BRCA1):c.5467+8G>A]

NM_007294.3(BRCA1):c.5467+8G>A

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.5467+8G>A
HGVS:
  • NC_000017.11:g.43047635C>T
  • NG_005905.2:g.170349G>A
  • NM_007294.3:c.5467+8G>A
  • NM_007297.4:c.5326+8G>A
  • NM_007298.3:c.2155+8G>A
  • NM_007299.4:c.2081+8G>A
  • NM_007300.4:c.5530+8G>A
  • LRG_292t1:c.5467+8G>A
  • LRG_292:g.170349G>A
  • NC_000017.10:g.41199652C>T
  • U14680.1:n.5586+8G>A
Nucleotide change:
IVS23+8G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5586+8&base_change=G to A; dbSNP: rs80358062
NCBI 1000 Genomes Browser:
rs80358062
Molecular consequence:
  • NM_007294.3:c.5467+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.5326+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.3:c.2155+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.2081+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.5530+8G>A - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000636042Invitaecriteria provided, single submitter
Likely benign
(Nov 17, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000636042.5

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

Last Updated: Jun 14, 2021

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