NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) AND multiple conditions

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Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 20, 2020
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:: RCV001646505.2

Allele description

NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)

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.6317T>C (p.Leu2106Pro)

Other names:

p.L2106P:CTT>CCT

HGVS:

NC_000013.11:g.32340672T>C
NG_012772.3:g.30193T>C
NM_000059.3:c.6317T>C
NM_000059.4:c.6317T>CMANE SELECT
NP_000050.2:p.Leu2106Pro
NP_000050.3:p.Leu2106Pro
LRG_293t1:c.6317T>C
LRG_293:g.30193T>C
LRG_293p1:p.Leu2106Pro
NC_000013.10:g.32914809T>C
NM_000059.4:c.6317T>C
U43746.1:n.6545T>C
p.L2106P

Nucleotide change:

6545T>C

Protein change:

L2106P

Links:

dbSNP: rs56172926

NCBI 1000 Genomes Browser:

rs56172926

Molecular consequence:

NM_000059.3:c.6317T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_000059.4:c.6317T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

Name:: Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Name:: Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:: Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001854877	Research and Development, ARUP Laboratories	criteria provided, single submitter (Plon et al Hum Mutat 2008 29:1282-91 Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results)	Likely benign (Jan 20, 2020)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 31131967, 18951446 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001854877

Research and Development, ARUP Laboratories

criteria provided, single submitter

(Plon et al Hum Mutat 2008 29:1282-91 Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results)

Likely benign
(Jan 20, 2020)

germline

curation

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]

PMID:: 31131967
PMCID:: PMC6772163

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group..

Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880.

PubMed [citation]

PMID:: 18951446
PMCID:: PMC3075918

Details of each submission

From Research and Development, ARUP Laboratories, SCV001854877.1

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

#	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

Last Updated: Nov 11, 2021

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