NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=) AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Apr 1, 2024
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:: RCV000589188.21

Allele description [Variation Report for NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=)]

NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=)

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.5529A>C (p.Ala1843=)

HGVS:

NC_000013.11:g.32339884A>C
NG_012772.3:g.29405A>C
NM_000059.4:c.5529A>CMANE SELECT
NP_000050.2:p.Ala1843=
NP_000050.3:p.Ala1843=
LRG_293t1:c.5529A>C
LRG_293:g.29405A>C
LRG_293p1:p.Ala1843=
NC_000013.10:g.32914021A>C
NM_000059.3:c.5529A>C

Links:

dbSNP: rs372951842

NCBI 1000 Genomes Browser:

rs372951842

Molecular consequence:

NM_000059.4:c.5529A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000889071	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Nov 8, 2022)	unknown	clinical testing	PubMed (6) [See all records that cite these PMIDs] 15918047, 24312913, 26109977, 25556971, 18403564, 26467025
SCV005042228	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Apr 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000889071

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Benign
(Nov 8, 2022)

unknown

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV005042228

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Apr 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.

Pietschmann A, Mehdipour P, Mehdipour P, Atri M, Hofmann W, Hosseini-Asl SS, Scherneck S, Mundlos S, Peters H.

J Cancer Res Clin Oncol. 2005 Aug;131(8):552-8. Epub 2005 May 26.

PubMed [citation]

PMID:: 15918047

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F, Mehdipour P.

Biomed Res Int. 2013;2013:928562. doi: 10.1155/2013/928562. Epub 2013 Nov 7. Review.

PubMed [citation]

PMID:: 24312913
PMCID:: PMC3838820

See all PubMed Citations (6)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889071.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	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 CeGaT Center for Human Genetics Tuebingen, SCV005042228.5

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

Description

BRCA2: BP4, BP7

#	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: Oct 13, 2024

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