U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.-5_11del (p.Met1fs) AND Breast neoplasm

Germline classification:
Pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000504614.8

Allele description [Variation Report for NM_000059.4(BRCA2):c.-5_11del (p.Met1fs)]

NM_000059.4(BRCA2):c.-5_11del (p.Met1fs)

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.-5_11del (p.Met1fs)
HGVS:
  • NC_000013.11:g.32316456_32316471del
  • NG_012772.3:g.5977_5992del
  • NG_017006.2:g.3895_3910del
  • NM_000059.4:c.-5_11delMANE SELECT
  • NM_000059.4:c.-5_11delTAAAAATGCCTATTGG
  • NP_000050.3:p.Met1fs
  • LRG_293:g.5977_5992del
  • NC_000013.10:g.32890593_32890608del
  • NG_017006.1:g.486_501del
  • NM_000059.3:c.-7_9del16
Protein change:
M1fs
Links:
dbSNP: rs1555280073
NCBI 1000 Genomes Browser:
rs1555280073
Molecular consequence:
  • NM_000059.4:c.-5_11del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000059.4:c.-5_11del - initiator_codon_variant - [Sequence Ontology: SO:0001582]

Condition(s)

Name:
Breast neoplasm
Synonyms:
Neoplasm of breast; Breast tumor; Neoplasm of the breast; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021100; MeSH: D001943; MedGen: C1458155; Human Phenotype Ontology: HP:0100013

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000583408Yang An-Suei Laboratory, Academia Sinica
criteria provided, single submitter

(Submitter's publication)		Pathogenicgermlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Yang An-Suei Laboratory, Academia Sinica, SCV000583408.2

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

Last Updated: May 12, 2024