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Items: 15

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr13:32910822
GRCh38:
Chr13:32336685
BRCA2Familial cancer of breast, Breast-ovarian cancer, familial 2, Malignant tumor of prostate,
Hereditary breast and ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 8, 2016)
reviewed by expert panel
2.
GRCh37:
Chr13:32906593
GRCh38:
Chr13:32332456
BRCA2Familial cancer of breast, Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome,
not specified, Hereditary cancer-predisposing syndrome, Breast cancer
GO-ESP:0.00085(A)
GMAF:0.00020(A)
Benign
(Aug 10, 2015)
reviewed by expert panel
3.
GRCh37:
Chr13:32944667
GRCh38:
Chr13:32370530
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not specified,
Hereditary cancer-predisposing syndrome
GO-ESP:0.01299(C)
GMAF:0.01440(C)
Benign
(Jan 12, 2015)
reviewed by expert panel
4.
GRCh37:
Chr13:32912560
GRCh38:
Chr13:32338423
BRCA2Familial cancer of breast, Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome,
not specified, Hereditary cancer-predisposing syndrome
GO-ESP:0.00315(A)
GMAF:0.00040(A)
Conflicting interpretations of pathogenicity
(May 1, 2016)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr13:32911756
GRCh38:
Chr13:32337619
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not specified,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00756(C)
GMAF:0.00680(C)
Benign
(Jan 12, 2015)
reviewed by expert panel
6.
GRCh37:
Chr13:32911375
GRCh38:
Chr13:32337238
BRCA2Familial cancer of breast, Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome,
not specified, Hereditary cancer-predisposing syndrome
GO-ESP:0.00131(A)
GMAF:0.00020(A)
Conflicting interpretations of pathogenicity
(Jan 29, 2016)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr13:32911295
GRCh38:
Chr13:32337158
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not specified,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00069(A)
GMAF:0.00040(A)
Benign/Likely benign, not provided
(Mar 27, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr13:32910630
GRCh38:
Chr13:32336493
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not specified,
Hereditary cancer-predisposing syndrome, Breast cancer
GO-ESP:0.00146(T)
GMAF:0.00240(T)
Conflicting interpretations of pathogenicity, not provided
(Jun 9, 2016)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr13:32906890
GRCh38:
Chr13:32332753
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not specified,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00331(G)
GMAF:0.00660(G)
Benign
(Jan 12, 2015)
reviewed by expert panel
10.
GRCh37:
Chr13:32937488
GRCh38:
Chr13:32363351
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not specified,
not provided, Hereditary cancer-predisposing syndrome
GO-ESP:0.00146(T)
GMAF:0.00060(T)
Benign
(Aug 10, 2015)
reviewed by expert panel
11.
GRCh37:
Chr13:32907129
GRCh38:
Chr13:32332992
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not specified,
not provided, Hereditary cancer-predisposing syndrome, Breast cancer
GO-ESP:0.00077(C)
GMAF:0.00040(C)
Benign/Likely benign
(May 5, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr13:32968861
GRCh38:
Chr13:32394724
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not specified,
Hereditary cancer-predisposing syndrome
GMAF:0.00040(C)Benign
(Aug 10, 2015)
reviewed by expert panel
13.
GRCh37:
Chr13:32945172
GRCh38:
Chr13:32371035
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not specified,
not provided, Hereditary cancer-predisposing syndrome
GO-ESP:0.00146(C)
GMAF:0.00020(C)
Benign/Likely benign
(Apr 25, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr13:32937333
GRCh38:
Chr13:32363196
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not specified,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00046(G)
GMAF:0.00020(G)
Benign/Likely benign
(Mar 4, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr13:32914978-32914981
GRCh38:
Chr13:32340841-32340844
BRCA2Familial cancer of breast, Breast-ovarian cancer, familial 2, not provided,
Hereditary cancer-predisposing syndrome
Pathogenic
(Apr 22, 2016)
reviewed by expert panel
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