NM_007294.4(BRCA1):c.1961del (p.Lys654fs) AND Breast neoplasm

This record was updated by the submitter. Please see the current version.

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:: RCV000414241.1

Allele description

NM_007294.4(BRCA1):c.1961del (p.Lys654fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.1961del (p.Lys654fs)

HGVS:

NC_000017.10:g.41245587del
NC_000017.11:g.43093577del
NG_005905.2:g.124414del
NM_007294.4:c.1961delMANE SELECT
NM_007297.4:c.1820del
NM_007299.4:c.787+1174del
NM_007300.4:c.1961del
NP_009225.1:p.Lys654fs
NP_009228.2:p.Lys607fs
NP_009231.2:p.Lys654fs
LRG_292t1:c.1961del
LRG_292:g.124414del
NC_000017.10:g.41245587del
NC_000017.10:g.41245587delT
NC_000017.10:g.41245594del
NM_007294.3:c.1961_1961delA
NM_007294.3:c.1961delA
NM_007294.4:c.1961del
NM_007298.3:c.787+1174del
NM_007300.3:c.1961delA
NR_027676.2:n.2138del
U14680.1:n.2080delA
p.K654SFS*47
p.Lys654Serfs*47
p.Lys654SerfsX47

Nucleotide change:

2080delA

Protein change:

K607fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 2080&base_change=del A; dbSNP: rs80357522

NCBI 1000 Genomes Browser:

rs80357522

Molecular consequence:

NM_007294.4:c.1961del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.1820del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.1961del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.787+1174del - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.2138del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Homo sapiens eva-1 homolog A, regulator of programmed cell death (EVA1A), transc...
Homo sapiens eva-1 homolog A, regulator of programmed cell death (EVA1A), transcript variant 1, mRNA
gi|1519242095|ref|NM_001135032.2|

Nucleotide
prostaglandin-H2 D-isomerase precursor [Homo sapiens]
prostaglandin-H2 D-isomerase precursor [Homo sapiens]
gi|32171249|ref|NP_000945.3|

Protein
Homo sapiens N-acetylglutamate synthase (NAGS), mRNA; nuclear gene for mitochond...
Homo sapiens N-acetylglutamate synthase (NAGS), mRNA; nuclear gene for mitochondrial product
gi|1653961578|ref|NM_153006.3|

Nucleotide
Homo sapiens radial spoke head 14 homolog (RSPH14), mRNA
Homo sapiens radial spoke head 14 homolog (RSPH14), mRNA
gi|1653962519|ref|NM_014433.3|

Nucleotide
Hypothetical Protein XCAW_01168 [Xanthomonas citri subsp. citri Aw12879]
Hypothetical Protein XCAW_01168 [Xanthomonas citri subsp. citri Aw12879]
gi|471210227|gnl|NwanglUF|XCAW_0114 AGI06977.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000492455	A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center	criteria provided, single submitter (Silva et al. (BMC Med Genet. 2014))	Pathogenic	germline	research	PubMed (2) [See all records that cite these PMIDs] 23469205, 24884479

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000492455

A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center

criteria provided, single submitter

(Silva et al. (BMC Med Genet. 2014))

Pathogenic

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

Carraro DM, Koike Folgueira MA, Garcia Lisboa BC, Ribeiro Olivieri EH, Vitorino Krepischi AC, de Carvalho AF, de Carvalho Mota LD, Puga RD, do Socorro Maciel M, Michelli RA, de Lyra EC, Grosso SH, Soares FA, Achatz MI, Brentani H, Moreira-Filho CA, Brentani MM.

PLoS One. 2013;8(3):e57581. doi: 10.1371/journal.pone.0057581. Epub 2013 Mar 1.

PubMed [citation]

PMID:: 23469205
PMCID:: PMC3586086

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM.

BMC Med Genet. 2014 May 15;15:55. doi: 10.1186/1471-2350-15-55.

PubMed [citation]

PMID:: 24884479
PMCID:: PMC4038072

Details of each submission

From A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center, SCV000492455.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 18, 2022

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