NM_000059.3(BRCA2):c.7992T>C (p.Ile2664=) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Likely benign (Last evaluated: Nov 13, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001486407.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.7992T>C (p.Ile2664=)]

NM_000059.3(BRCA2):c.7992T>C (p.Ile2664=)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.7992T>C (p.Ile2664=)
Other names:
I2664I
HGVS:
  • NC_000013.11:g.32363194T>C
  • NG_012772.3:g.52715T>C
  • NM_000059.3:c.7992T>C
  • NP_000050.2:p.Ile2664=
  • LRG_293t1:c.7992T>C
  • LRG_293:g.52715T>C
  • LRG_293p1:p.Ile2664=
  • NC_000013.10:g.32937331T>C
  • U43746.1:n.8220T>C
Links:
dbSNP: rs80359800
NCBI 1000 Genomes Browser:
rs80359800
Molecular consequence:
  • NM_000059.3:c.7992T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001690863Invitaecriteria provided, single submitter
Likely benign
(Nov 13, 2019)
germlineclinical testing

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

Summary from all submissions

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

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, SCV001690863.1

#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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