NM_000059.4(BRCA2):c.7025A>C (p.Gln2342Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 26, 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:: RCV000777109.14

Allele description [Variation Report for NM_000059.4(BRCA2):c.7025A>C (p.Gln2342Pro)]

NM_000059.4(BRCA2):c.7025A>C (p.Gln2342Pro)

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.7025A>C (p.Gln2342Pro)

HGVS:

NC_000013.11:g.32354878A>C
NG_012772.3:g.44399A>C
NM_000059.4:c.7025A>CMANE SELECT
NP_000050.2:p.Gln2342Pro
NP_000050.3:p.Gln2342Pro
LRG_293t1:c.7025A>C
LRG_293:g.44399A>C
LRG_293p1:p.Gln2342Pro
NC_000013.10:g.32929015A>C
NM_000059.3:c.7025A>C

Protein change:

Q2342P

Links:

dbSNP: rs1555285981

NCBI 1000 Genomes Browser:

rs1555285981

Molecular consequence:

NM_000059.4:c.7025A>C - 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

Clear Turn Off Turn On

Chain B, Cysteine Sulfinic Acid Decarboxylase
Chain B, Cysteine Sulfinic Acid Decarboxylase
gi|158428978|pdb|2JIS|B

Protein
Homo sapiens CD8 subunit alpha (CD8A), transcript variant 3, mRNA
Homo sapiens CD8 subunit alpha (CD8A), transcript variant 3, mRNA
gi|225007535|ref|NM_001145873.1|

Nucleotide
hypothetical protein [Streptomyces sp. RLB3-6]
hypothetical protein [Streptomyces sp. RLB3-6]
gi|1818359414|ref|WP_164662611.1|

Protein
coiled-coil domain-containing protein 18 isoform X25 [Homo sapiens]
coiled-coil domain-containing protein 18 isoform X25 [Homo sapiens]
gi|2217267073|ref|XP_016856658.2|

Protein
coiled-coil domain-containing protein 18 isoform X4 [Homo sapiens]
coiled-coil domain-containing protein 18 isoform X4 [Homo sapiens]
gi|2217267022|ref|XP_047275424.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000912796	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 28, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002666918	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000912796

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 28, 2019)

germline

clinical testing

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

SCV002666918

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 26, 2023)

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, SCV000912796.2

#	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, SCV002666918.3

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

Description

The p.Q2342P variant (also known as c.7025A>C), located in coding exon 13 of the BRCA2 gene, results from an A to C substitution at nucleotide position 7025. The glutamine at codon 2342 is replaced by proline, an amino acid with similar properties. This amino acid position is not 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: Nov 10, 2024

ClinVar

Relating variation to medicine