NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Apr 9, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000409077.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)]

NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)

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.6024G>C (p.Lys2008Asn)

Other names:

p.K2008N:AAG>AAC

HGVS:

NC_000013.11:g.32340379G>C
NG_012772.3:g.29900G>C
NM_000059.4:c.6024G>CMANE SELECT
NP_000050.2:p.Lys2008Asn
NP_000050.3:p.Lys2008Asn
LRG_293t1:c.6024G>C
LRG_293:g.29900G>C
LRG_293p1:p.Lys2008Asn
NC_000013.10:g.32914516G>C
NM_000059.3:c.6024G>C
p.K2008N

Protein change:

K2008N

Links:

dbSNP: rs56324666

NCBI 1000 Genomes Browser:

rs56324666

Molecular consequence:

NM_000059.4:c.6024G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

Recent activity

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dickkopf-like protein 1 [Mus musculus]
dickkopf-like protein 1 [Mus musculus]
gi|385398328|gb|AFI61654.1|

Protein
Streptococcus salivarius strain DFI.4.50 LFGFHOCO_3, whole genome shotgun sequen...
Streptococcus salivarius strain DFI.4.50 LFGFHOCO_3, whole genome shotgun sequence
gi|2124840623|ref|NZ_JAJCHE01000000 gnl|WGS:NZ_JAJCHE01|LFGFHOCO_3

Nucleotide
Streptococcus parasanguinis strain CF8_Ac2-4, whole genome shotgun sequencing pr...
Streptococcus parasanguinis strain CF8_Ac2-4, whole genome shotgun sequencing project
gi|2273334230|gb|JANCOR000000000.1| R010000000

Nucleotide
oocyte zinc finger protein XlCOF6.1 [Fundulus heteroclitus]
oocyte zinc finger protein XlCOF6.1 [Fundulus heteroclitus]
gi|1900292982|ref|XP_012737156.2|

Protein
MIGS Cultured Bacterial/Archaeal sample from Streptococcus parasanguinis
MIGS Cultured Bacterial/Archaeal sample from Streptococcus parasanguinis

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000488258	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Feb 9, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV001139132	Mendelics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 9, 2024)	unknown	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

SCV000488258

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Feb 9, 2016)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001139132

Mendelics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Apr 9, 2024)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Counsyl, SCV000488258.2

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

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

From Mendelics, SCV001139132.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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