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NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs) AND Breast carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001568366.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)]

NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
HGVS:
  • NC_000013.11:g.32338106dup
  • NG_012772.3:g.27627dup
  • NM_000059.4:c.3751dupMANE SELECT
  • NP_000050.3:p.Thr1251fs
  • LRG_293:g.27627dup
  • NC_000013.10:g.32912240_32912241insA
  • NC_000013.10:g.32912243dup
  • NC_000013.11:g.32338106_32338107insA
  • NM_000059.3:c.3751dupA
  • NM_000059.4:c.3751dupAMANE SELECT
  • p.T1251NfsX14
Protein change:
T1251fs
Links:
dbSNP: rs397507683
NCBI 1000 Genomes Browser:
rs397507683
Molecular consequence:
  • NM_000059.4:c.3751dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Breast carcinoma
Synonyms:
Carcinoma of breast
Identifiers:
MONDO: MONDO:0004989; MedGen: C0678222; Human Phenotype Ontology: HP:0003002

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001792251Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
no assertion criteria provided
Pathogenic
(Aug 18, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, SCV001792251.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

Invasive Ductal Carcinoma Estrogen Receptor: Positive Progesterone Receptor: Positive HER2 Receptor: Positive

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024