NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Benign (4 submissions)
Last evaluated:: Aug 10, 2015
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000031459.16

Allele description [Variation Report for NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr)]

NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr)

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.4094G>A (p.Cys1365Tyr)

Other names:

p.C1365Y:TGT>TAT

HGVS:

NC_000013.11:g.32338449G>A
NG_012772.3:g.27970G>A
NM_000059.4:c.4094G>AMANE SELECT
NP_000050.2:p.Cys1365Tyr
NP_000050.3:p.Cys1365Tyr
LRG_293t1:c.4094G>A
LRG_293:g.27970G>A
LRG_293p1:p.Cys1365Tyr
NC_000013.10:g.32912586G>A
NM_000059.3:c.4094G>A
U43746.1:n.4322G>A
p.C1365Y

Nucleotide change:

4322G>A

Protein change:

C1365Y

Links:

dbSNP: rs80358657

NCBI 1000 Genomes Browser:

rs80358657

Molecular consequence:

NM_000059.4:c.4094G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

Recent activity

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Phosphatidylethanolamine binding protein 1 [Homo sapiens]
Phosphatidylethanolamine binding protein 1 [Homo sapiens]
gi|14250526|gb|AAH08714.1|

Protein
Austroraptus polaris isolate PYC114 ultraconserved element UCE2481 genomic seque...
Austroraptus polaris isolate PYC114 ultraconserved element UCE2481 genomic sequence
gi|1912093102|gb|MT867856.1|

Nucleotide
Austroraptus polaris isolate PYC114 ultraconserved element UCE1752 genomic seque...
Austroraptus polaris isolate PYC114 ultraconserved element UCE1752 genomic sequence
gi|1912092412|gb|MT867689.1|

Nucleotide
AAG58305 (0)
GEO DataSets
AAG58305 AND 1[s_discriminator] (0)
dbGaP

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000054064	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Benign (Jun 2, 2009)	germline	clinical testing
SCV000146373	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (Feb 20, 2004)	germline	clinical testing
SCV000244446	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Benign (Aug 10, 2015)	germline	curation	PubMed (1) [See all records that cite this PMID] ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000784931	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Benign (Feb 14, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19491284, 22711857, 17924331 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	3	not provided	not provided	3	not provided	clinical testing
not provided	germline	yes	5	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Ireland	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]

PMID:: 21990134
PMCID:: PMC3242438

Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, Matloff E, Lee MH, Nissenblatt M, Toppmeyer D, Moran MS.

Ann Oncol. 2009 Oct;20(10):1653-9. doi: 10.1093/annonc/mdp051. Epub 2009 Jun 2.

PubMed [citation]

PMID:: 19491284

See all PubMed Citations (4)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054064.5

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	3	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146373.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	not provided
2	Western European	1	not provided	not provided	clinical testing	not provided
3	Western European, Ireland	1	not provided	not provided	clinical testing	not provided

#	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		5	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244446.1

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000136

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

From Counsyl, SCV000784931.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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

Last Updated: Oct 26, 2024

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