NM_000059.4(BRCA2):c.4214_4218del (p.Asn1405fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV003445473.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.4214_4218del (p.Asn1405fs)]

NM_000059.4(BRCA2):c.4214_4218del (p.Asn1405fs)

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.4214_4218del (p.Asn1405fs)

HGVS:

NC_000013.11:g.32338569_32338573del
NG_012772.3:g.28090_28094del
NM_000059.4:c.4214_4218delMANE SELECT
NM_001406719.1:c.4214_4218del
NM_001406720.1:c.4214_4218del
NM_001406721.1:c.1909+5182_1909+5186del
NM_001406722.1:c.425-5989_425-5985del
NP_000050.2:p.Asn1405Argfs
NP_000050.3:p.Asn1405fs
NP_001393648.1:p.Asn1405fs
NP_001393649.1:p.Asn1405fs
LRG_293t1:c.4214_4218del
LRG_293:g.28090_28094del
NC_000013.10:g.32912706_32912710del
NM_000059.3:c.4214_4218del
NM_000059.3:c.4214_4218delATAAA
NR_176251.1:n.4413_4417del

Protein change:

N1405fs

Molecular consequence:

NM_000059.4:c.4214_4218del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406719.1:c.4214_4218del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406720.1:c.4214_4218del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406721.1:c.1909+5182_1909+5186del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406722.1:c.425-5989_425-5985del - intron variant - [Sequence Ontology: SO:0001627]
NR_176251.1:n.4413_4417del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004174263	Hauer Lab, Department Of Pediatric Oncology, Technical University Munich	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	research	PubMed (2) [See all records that cite these PMIDs] 37149759, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004174263

Hauer Lab, Department Of Pediatric Oncology, Technical University Munich

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	1	not provided	139	not provided	research

Citations

PubMed

A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.

Friedrich UA, Bienias M, Zinke C, Prazenicova M, Lohse J, Jahn A, Menzel M, Langanke J, Walter C, Wagener R, Brozou T, Varghese J, Dugas M, Erlacher M, Schröck E, Suttorp M, Borkhardt A, Hauer J, Auer F.

Genet Med. 2023 Aug;25(8):100875. doi: 10.1016/j.gim.2023.100875. Epub 2023 May 3.

PubMed [citation]

PMID:: 37149759

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 Hauer Lab, Department Of Pediatric Oncology, Technical University Munich, SCV004174263.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

Description

ACMG/AMP, PVS1, PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	139	not provided	not provided		1	not provided	1	not provided

Last Updated: Sep 1, 2024

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