NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Feb 16, 2018
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:: RCV000077013.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)]

NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)

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.7865A>G (p.Asn2622Ser)

Other names:

p.N2622S:AAT>AGT; p.Asn2622Ser

HGVS:

NC_000013.11:g.32362582A>G
NG_012772.3:g.52103A>G
NM_000059.4:c.7865A>GMANE SELECT
NP_000050.2:p.Asn2622Ser
NP_000050.3:p.Asn2622Ser
LRG_293t1:c.7865A>G
LRG_293:g.52103A>G
LRG_293p1:p.Asn2622Ser
NC_000013.10:g.32936719A>G
NM_000059.3:c.7865A>G
p.N2622S

Nucleotide change:

8093A>G

Protein change:

N2622S

Links:

dbSNP: rs142899125

NCBI 1000 Genomes Browser:

rs142899125

Molecular consequence:

NM_000059.4:c.7865A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108810	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Likely pathogenic (Jan 10, 2013)	germline	clinical testing
SCV000267812	Michigan Medical Genetics Laboratories, University of Michigan	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 21, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000786046	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Feb 16, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000108810

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Likely pathogenic
(Jan 10, 2013)

germline

clinical testing

SCV000267812

Michigan Medical Genetics Laboratories, University of Michigan

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 21, 2016)

germline

clinical testing

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

SCV000786046

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Feb 16, 2018)

unknown

clinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	5	not provided	not provided	5	not provided	clinical testing
not provided	unknown	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

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

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]

PMID:: 25186627

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108810.4

#	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	germline	not provided	5	not provided	not provided		not provided	not provided	not provided	not provided

From Michigan Medical Genetics Laboratories, University of Michigan, SCV000267812.1

#	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	yes	not provided	Blood	not provided		not provided	not provided	not provided	not provided

From Counsyl, SCV000786046.2

#	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: Nov 24, 2024

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