NM_000059.4(BRCA2):c.8532_8546del (p.Arg2845_Lys2849del) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 28, 2024
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:: RCV003530654.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.8532_8546del (p.Arg2845_Lys2849del)]

NM_000059.4(BRCA2):c.8532_8546del (p.Arg2845_Lys2849del)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.8532_8546del (p.Arg2845_Lys2849del)

HGVS:

NC_000013.11:g.32371000_32371014del
NG_012772.3:g.60521_60535del
NM_000059.4:c.8532_8546delMANE SELECT
NM_001406719.1:c.8436_8450del
NM_001406720.1:c.8532_8546del
NM_001406721.1:c.3600_3614del
NM_001406722.1:c.2115_2129del
NP_000050.2:p.Arg2845_Lys2849del
NP_000050.3:p.Arg2845_Lys2849del
NP_001393648.1:p.Arg2813_Lys2817del
NP_001393649.1:p.Arg2845_Lys2849del
NP_001393650.1:p.Arg1201_Lys1205del
NP_001393651.1:p.Arg706_Lys710del
LRG_293t1:c.8532_8546del
LRG_293:g.60521_60535del
LRG_293p1:p.Arg2845_Lys2849del
NC_000013.10:g.32945136_32945150del
NC_000013.10:g.32945137_32945151del
NM_000059.3:c.8532_8546delAAGAGAGGAAGAAAA
NR_176251.1:n.8731_8745del

Molecular consequence:

NM_000059.4:c.8532_8546del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406719.1:c.8436_8450del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406720.1:c.8532_8546del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406721.1:c.3600_3614del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406722.1:c.2115_2129del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_176251.1:n.8731_8745del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

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Homo sapiens pyroglutamyl-peptidase I (PGPEP1), mRNA
Homo sapiens pyroglutamyl-peptidase I (PGPEP1), mRNA
gi|8923197|ref|NM_017712.1|

Nucleotide
Pancreatic ductal adenocarcinoma
Pancreatic ductal adenocarcinoma

MedGen
C1335302[conceptid] (1)
MedGen
SIGLEC12 [Colobus angolensis palliatus]
SIGLEC12 [Colobus angolensis palliatus]
Gene ID:105514699

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004269667	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 28, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004269667

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 28, 2024)

germline

clinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004269667.1

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

Description

This variant, c.8532_8546del, results in the deletion of 5 amino acid(s) of the BRCA2 protein (p.Arg2845_Lys2849del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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 29, 2024

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