NM_000059.4(BRCA2):c.8348C>A (p.Thr2783Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 19, 2021
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:: RCV000579567.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.8348C>A (p.Thr2783Asn)]

NM_000059.4(BRCA2):c.8348C>A (p.Thr2783Asn)

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.8348C>A (p.Thr2783Asn)

HGVS:

NC_000013.11:g.32370418C>A
NG_012772.3:g.59939C>A
NM_000059.4:c.8348C>AMANE SELECT
NP_000050.2:p.Thr2783Asn
NP_000050.3:p.Thr2783Asn
LRG_293t1:c.8348C>A
LRG_293:g.59939C>A
LRG_293p1:p.Thr2783Asn
NC_000013.10:g.32944555C>A
NM_000059.3:c.8348C>A

Protein change:

T2783N

Links:

dbSNP: rs1555287610

NCBI 1000 Genomes Browser:

rs1555287610

Molecular consequence:

NM_000059.4:c.8348C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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MULTISPECIES: methionine ABC transporter substrate-binding lipoprotein MetQ [Kle...
MULTISPECIES: methionine ABC transporter substrate-binding lipoprotein MetQ [Klebsiella]
gi|496082829|ref|WP_008807336.1|

Protein
Cutibacterium modestum HL037PA2 Scfld37, whole genome shotgun sequence
Cutibacterium modestum HL037PA2 Scfld37, whole genome shotgun sequence
gi|422471643|ref|NZ_GL384137.1||gnl NZ_ADYH01|Scfld37

Nucleotide
Cutibacterium modestum HL037PA2 Scfld39, whole genome shotgun sequence
Cutibacterium modestum HL037PA2 Scfld39, whole genome shotgun sequence
gi|422471645|ref|NZ_GL384138.1||gnl NZ_ADYH01|Scfld39

Nucleotide
exodeoxyribonuclease VII large subunit [Bacillus subtilis]
exodeoxyribonuclease VII large subunit [Bacillus subtilis]
gi|1718055120|ref|WP_144530378.1|

Protein
IL1F8 (0)
Conserved Domains

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000683959	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 2, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002676625	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 19, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000683959

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 2, 2019)

germline

clinical testing

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

SCV002676625

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 19, 2021)

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	unknown	not provided	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 Color Diagnostics, LLC DBA Color Health, SCV000683959.3

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Ambry Genetics, SCV002676625.2

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

Description

The p.T2783N variant (also known as c.8348C>A), located in coding exon 18 of the BRCA2 gene, results from a C to A substitution at nucleotide position 8348. The threonine at codon 2783 is replaced by asparagine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 1, 2024

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