NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jul 31, 2017)
Review status:2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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Based on:: 2 submissions [Details]
Record status:: current
Accession:: RCV000131675.6

Allele description

NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe)

HGVS:

NC_000013.11:g.32362596A>T
NG_012772.3:g.52117A>T
NM_000059.3:c.7879A>T
NP_000050.2:p.Ile2627Phe
LRG_293t1:c.7879A>T
LRG_293:g.52117A>T
LRG_293p1:p.Ile2627Phe
NC_000013.10:g.32936733A>T
U43746.1:n.8107A>T
p.I2627F

Nucleotide change:

8107A>T

Protein change:

I2627F

Links:

dbSNP: rs80359014

NCBI 1000 Genomes Browser:

rs80359014

Molecular consequence:

NM_000059.3:c.7879A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000186711	Ambry Genetics	criteria provided, single submitter Ambry Autosomal Dominant and X-Linked criteria (3/2017)	Likely pathogenic (Jul 31, 2017)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 25948282, 20383589, 25452441, 17924331, 23108138, 21990134, 19043619, 25146914, 21232165, 20104584, 10699917, 25447315 Citation Link,
SCV000683913	Color	criteria provided, single submitter ACMG Guidelines, 2015	Pathogenic (Nov 3, 2016)	germline	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

SCV000186711

Ambry Genetics

criteria provided, single submitter

Ambry Autosomal Dominant and X-Linked criteria (3/2017)

Likely pathogenic
(Jul 31, 2017)

germline

clinical testing

PubMed (12)
[See all records that cite these PMIDs]

Citation Link,

SCV000683913

Color

criteria provided, single submitter

ACMG Guidelines, 2015

Pathogenic
(Nov 3, 2016)

germline

clinical testing

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

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Kluska A, Balabas A, Paziewska A, Kulecka M, Nowakowska D, Mikula M, Ostrowski J.

BMC Med Genomics. 2015 May 7;8:19. doi: 10.1186/s12920-015-0092-2.

PubMed [citation]

PMID:: 25948282
PMCID:: PMC4429836

Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.

Balabas A, Skasko E, Nowakowska D, Niwinska A, Blecharz P.

Fam Cancer. 2010 Sep;9(3):267-74. doi: 10.1007/s10689-010-9338-5.

PubMed [citation]

PMID:: 20383589

See all PubMed Citations (13)

Details of each submission

From Ambry Genetics, SCV000186711.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (12)

Description

Other strong data supporting pathogenic classification,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation

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

From Color, SCV000683913.1

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

Last Updated: Oct 10, 2018

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