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NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Apr 9, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000409077.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)]

NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)
Other names:
p.K2008N:AAG>AAC
HGVS:
  • NC_000013.11:g.32340379G>C
  • NG_012772.3:g.29900G>C
  • NM_000059.4:c.6024G>CMANE SELECT
  • NP_000050.2:p.Lys2008Asn
  • NP_000050.3:p.Lys2008Asn
  • LRG_293t1:c.6024G>C
  • LRG_293:g.29900G>C
  • LRG_293p1:p.Lys2008Asn
  • NC_000013.10:g.32914516G>C
  • NM_000059.3:c.6024G>C
  • p.K2008N
Protein change:
K2008N
Links:
dbSNP: rs56324666
NCBI 1000 Genomes Browser:
rs56324666
Molecular consequence:
  • NM_000059.4:c.6024G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000488258Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Feb 9, 2016) 		unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001139132Mendelics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Apr 9, 2024) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Counsyl, SCV000488258.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001139132.2

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

Last Updated: Sep 29, 2024