NM_000059.4(BRCA2):c.6216del (p.Leu2073fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 10, 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:: RCV000759635.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.6216del (p.Leu2073fs)]

NM_000059.4(BRCA2):c.6216del (p.Leu2073fs)

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.6216del (p.Leu2073fs)

Other names:

6444delC

HGVS:

NC_000013.11:g.32340571del
NG_012772.3:g.30092del
NM_000059.4:c.6216delMANE SELECT
NP_000050.3:p.Leu2073fs
LRG_293:g.30092del
NC_000013.10:g.32914707del
NC_000013.10:g.32914708del
NM_000059.3:c.6216delC
U43746.1:n.6444delC
p.L2073Yfs*8

Links:

Breast Cancer Information Core (BIC) (BRCA2): 6444&base_change=del C; dbSNP: rs80359567

NCBI 1000 Genomes Browser:

rs80359567

Molecular consequence:

NM_000059.4:c.6216del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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ribosomal protein S7 (chloroplast) [Camellia longissima]
ribosomal protein S7 (chloroplast) [Camellia longissima]
gi|2674513877|gb|WVV32691.1|

Protein
ribosomal protein S15 (chloroplast) [Camellia longissima]
ribosomal protein S15 (chloroplast) [Camellia longissima]
gi|2674513874|gb|WVV32688.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000889090	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Mar 5, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005081515	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000889090

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Mar 5, 2016)

germline

clinical testing

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

SCV005081515

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889090.2

#	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 GeneDx, SCV005081515.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Identified in individuals referred for multi-gene panel testing with personal or family history of cancer (PMID: 31853058); Not observed at significant frequency in large population cohorts (gnomAD); Also known as 6444del; This variant is associated with the following publications: (PMID: 28152038, 31853058)

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

Last Updated: Sep 16, 2024

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