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

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

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:
1

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000186711Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Jul 31, 2017)
germlineclinical testing

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

Citation Link,

SCV000683913Colorcriteria provided, single submitter
Pathogenic
(Nov 3, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical 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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color, SCV000683913.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 10, 2018

Support Center