NM_000059.4(BRCA2):c.8902_8913delinsTCCC (p.Thr2968fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 6, 2022
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:: RCV002372206.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.8902_8913delinsTCCC (p.Thr2968fs)]

NM_000059.4(BRCA2):c.8902_8913delinsTCCC (p.Thr2968fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.8902_8913delinsTCCC (p.Thr2968fs)

Other names:

9130del12insTCCC

HGVS:

NC_000013.11:g.32379464_32379475delinsTCCC
NG_012772.3:g.68985_68996delinsTCCC
NM_000059.4:c.8902_8913delinsTCCCMANE SELECT
NM_001406719.1:c.8806_8817delACCGTGTGGAAGinsTCCC
NM_001406720.1:c.8902_8913delACCGTGTGGAAGinsTCCC
NM_001406721.1:c.3970_3981delACCGTGTGGAAGinsTCCC
NM_001406722.1:c.2485_2496delACCGTGTGGAAGinsTCCC
NP_000050.2:p.Thr2968Serfs
NP_000050.3:p.Thr2968fs
NP_001393648.1:p.Thr2936Serfs
NP_001393649.1:p.Thr2968Serfs
NP_001393650.1:p.Thr1324Serfs
NP_001393651.1:p.Thr829Serfs
LRG_293t1:c.8902_8913delACCGTGTGGAAGinsTCCC
LRG_293:g.68985_68996delinsTCCC
LRG_293p1:p.Thr2968Serfs
NC_000013.10:g.32953601_32953612delinsTCCC
NM_000059.3:c.8902_8913del12insTCCC
NM_000059.3:c.8902_8913delACCGTGTGGAAGinsTCCC
NR_176251.1:n.9165_9176delACCGTGTGGAAGinsTCCC

Protein change:

T2968fs

Links:

dbSNP: rs864622735

NCBI 1000 Genomes Browser:

rs864622735

Molecular consequence:

NM_000059.4:c.8902_8913delinsTCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406719.1:c.8806_8817delACCGTGTGGAAGinsTCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406720.1:c.8902_8913delACCGTGTGGAAGinsTCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406721.1:c.3970_3981delACCGTGTGGAAGinsTCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406722.1:c.2485_2496delACCGTGTGGAAGinsTCCC - frameshift variant - [Sequence Ontology: SO:0001589]

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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P Scherer (990681)
Identical Protein Groups
SRP059313 (4)
SRA
ras-related protein Rab-31 [Mus musculus]
ras-related protein Rab-31 [Mus musculus]
gi|225579124|ref|NP_598446.2|

Protein
Mus musculus gap junction protein, alpha 1 (Gja1), transcript variant 1, mRNA
Mus musculus gap junction protein, alpha 1 (Gja1), transcript variant 1, mRNA
gi|2697890013|ref|NM_010288.4|

Nucleotide
Homo sapiens solute carrier family 4 member 2 (SLC4A2), transcript variant 1, mR...
Homo sapiens solute carrier family 4 member 2 (SLC4A2), transcript variant 1, mRNA
gi|1519241551|ref|NM_003040.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002685383	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Sep 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002685383

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Sep 6, 2022)

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, SCV002685383.2

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

Description

The c.8902_8913del12insTCCC pathogenic mutation, located in coding exon 21 of the BRCA2 gene, results from the deletion of 12 nucleotides and insertion of 4 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.T2968Sfs*47). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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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