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NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND Breast carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 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:
RCV001554310.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)]

NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)

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.9117G>A (p.Pro3039=)
Other names:
P3039P; p.P3039P:CCG>CCA; NM_000059.4(BRCA2):c.9117G>A; p.Pro3039=
HGVS:
  • NC_000013.11:g.32379913G>A
  • NG_012772.3:g.69434G>A
  • NM_000059.4:c.9117G>AMANE SELECT
  • NP_000050.2:p.Pro3039=
  • NP_000050.3:p.Pro3039=
  • LRG_293t1:c.9117G>A
  • LRG_293:g.69434G>A
  • LRG_293p1:p.Pro3039=
  • NC_000013.10:g.32954050G>A
  • NM_000059.3:c.9117G>A
  • U43746.1:n.9345G>A
  • p.P3039P
Nucleotide change:
9345G>A
Links:
dbSNP: rs28897756
NCBI 1000 Genomes Browser:
rs28897756
Molecular consequence:
  • NM_000059.4:c.9117G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001774869Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
no assertion criteria provided
Pathogenic
(Aug 9, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, SCV001774869.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

Diagnosis: Breast cancer Pathology: Invasive ductal breast carcinoma IHC: ER:+, PR:+, HER2:-

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

Last Updated: Nov 3, 2024