NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) AND multiple conditions

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 13, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002482932.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)]

NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)

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.5073dup (p.Trp1692fs)

Other names:

5301_5302insA; p.Trp1692MetfsX3; p.Trp1692fs

HGVS:

NC_000013.11:g.32339428dup
NG_012772.3:g.28949dup
NM_000059.4:c.5073dupMANE SELECT
NP_000050.3:p.Trp1692fs
LRG_293:g.28949dup
NC_000013.10:g.32913558_32913559insA
NC_000013.10:g.32913565dup
NC_000013.10:g.32913565dupA
NM_000059.3:c.5073dupA
NM_000059.4:c.5073dup
NM_000059.4:c.5073dupA
U43746.1:n.5301_5302insA
p.Trp1692Metfs*3
p.W1692Mfs*3
p.W1692MfsX3

Nucleotide change:

5301insA

Protein change:

W1692fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 5301&base_change=ins A; dbSNP: rs80359479

NCBI 1000 Genomes Browser:

rs80359479

Observations:

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

Name:: Fanconi anemia complementation group D1
Identifiers:: MONDO: MONDO:0011584; MedGen: C1838457; OMIM: 605724

Name:: Medulloblastoma (MDB)
Synonyms:: Medulloblastoma, somatic; MEDULLOBLASTOMA PREDISPOSITION SYNDROME
Identifiers:: MONDO: MONDO:0007959; MeSH: D008527; MedGen: C0025149; Orphanet: 616; OMIM: 155255; Human Phenotype Ontology: HP:0002885

Name:: Wilms tumor 1 (WT1)
Synonyms:: Wilms tumor, somatic
Identifiers:: MONDO: MONDO:0008679; MedGen: CN033288; Orphanet: 654; OMIM: 194070

Name:: Malignant tumor of prostate
Synonyms:: Prostate cancer
Identifiers:: MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; Human Phenotype Ontology: HP:0012125

Name:: Pancreatic cancer, susceptibility to, 2
Synonyms:: Pancreatic cancer 2
Identifiers:: MONDO: MONDO:0013235; MedGen: C3150546; Orphanet: 1333; OMIM: 613347

Name:: Glioma susceptibility 3 (GLM3)
Synonyms:: Glioblastoma 3
Identifiers:: MONDO: MONDO:0013093; MedGen: C2751641; Orphanet: 182067; Orphanet: 360; OMIM: 613029

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002780077	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 31, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004121692	Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 13, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002780077

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 31, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004121692

Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 13, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Latin	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002780077.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

From Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili, SCV004121692.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Latin	1	not provided	not provided	clinical testing	PubMed (1)

#	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		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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