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NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) AND Breast carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 8, 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:
RCV001554244.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)]

NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
Other names:
995del5
HGVS:
  • NC_000013.10:g.32905141_32905145del
  • NC_000013.11:g.32331008_32331012del
  • NG_012772.3:g.20529_20533del
  • NM_000059.4:c.771_775delMANE SELECT
  • NP_000050.3:p.Asn257fs
  • LRG_293:g.20529_20533del
  • NC_000013.10:g.32905141_32905145del
  • NC_000013.10:g.32905145_32905149del
  • NC_000013.10:g.32905145_32905149del
  • NC_000013.10:g.32905145_32905149delTCAAA
  • NM_000059.3:c.771_775delTCAAA
  • NM_000059.4:c.771_775delTCAAA
  • U43746.1:n.995_999delCAAAT
  • U43746.1:n.999_1003delTCAAA
  • p.Asn257Lysfs*17
  • p.N257KFS*17
  • p.N257KfsX17
Nucleotide change:
999del5
Links:
Breast Cancer Information Core (BIC) (BRCA2): 995&base_change=del CAAAT; Breast Cancer Information Core (BIC) (BRCA2): 999&base_change=del TCAAA; OMIM: 600185.0010; dbSNP: rs80359671
NCBI 1000 Genomes Browser:
rs80359671
Molecular consequence:
  • NM_000059.4:c.771_775del - 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
SCV001774821Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
no assertion criteria provided
Pathogenic
(Aug 8, 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, SCV001774821.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

Invasive breast carcinoma EST receptor + PRO receptor + HER2 receptor +

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

Last Updated: Nov 3, 2024