NM_000059.4(BRCA2):c.9899C>A (p.Pro3300Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 10, 2023
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:: RCV001019865.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.9899C>A (p.Pro3300Gln)]

NM_000059.4(BRCA2):c.9899C>A (p.Pro3300Gln)

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.9899C>A (p.Pro3300Gln)

HGVS:

NC_000013.11:g.32398412C>A
NG_012772.3:g.87933C>A
NM_000059.4:c.9899C>AMANE SELECT
NP_000050.3:p.Pro3300Gln
LRG_293t1:c.9899C>A
LRG_293:g.87933C>A
NC_000013.10:g.32972549C>A
NM_000059.3:c.9899C>A

Protein change:

P3300Q

Links:

dbSNP: rs544677125

NCBI 1000 Genomes Browser:

rs544677125

Molecular consequence:

NM_000059.4:c.9899C>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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Triodia AND sp.* (0)
Books
mediator of RNA polymerase II transcription subunit 1 isoform X2 [Rattus norvegi...
mediator of RNA polymerase II transcription subunit 1 isoform X2 [Rattus norvegicus]
gi|1046850229|ref|XP_017452960.1|

Protein
Tssr150135 AND (alive[prop]) (0)
Gene
Tssr8849 AND (alive[prop]) (0)
Gene
ethylene-responsive transcription factor ERF106 [Populus trichocarpa]
ethylene-responsive transcription factor ERF106 [Populus trichocarpa]
gi|2396422485|ref|XP_002299407.3|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001181274	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001181274

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 10, 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

Details of each submission

From Ambry Genetics, SCV001181274.5

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

Description

The p.P3300Q variant (also known as c.9899C>A), located in coding exon 26 of the BRCA2 gene, results from a C to A substitution at nucleotide position 9899. The proline at codon 3300 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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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