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Items: 1 to 100 of 3367

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:41189422-41200474
GRCh38:
Chr17:43037405-43048457
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 2, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr17:41193679-41198104
GRCh38:
Chr17:43041662-43046087
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 2, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr17:41196311-41197818
GRCh38:
Chr17:43044294-43045801
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Nov 5, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr17:41196312-41197819
GRCh38:
Chr17:43044295-43045802
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Sep 27, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr17:41196312-41209152
GRCh38:
Chr17:43044295-43057135
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Jul 25, 2016)
criteria provided, single submitter
6.
GRCh38:
Chr17:43045086-43057213
BRCA1Familial cancer of breastPathogenic
(May 4, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr17:41197589-41197592
GRCh38:
Chr17:43045572-43045575
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 17, 2011)
no assertion criteria provided
8.
GRCh38:
Chr17:43045584-43045853
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Apr 19, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr17:41197675-41199740
GRCh38:
Chr17:43045658-43047723
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Jun 14, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr17:41197675-41197839
GRCh38:
Chr17:43045658-43045822
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Jul 2, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr17:41197675-41203154
GRCh38:
Chr17:43045658-43051137
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(May 29, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr17:41197689-41199726
GRCh38:
Chr17:43045672-43047709
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Feb 27, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr17:41197690-41197817
GRCh38:
Chr17:43045673-43045800
BRCA1Malignant tumor of breast, Breast-ovarian cancer, familial, susceptibility to, 1Pathogenicno assertion criteria provided
14.
GRCh37:
Chr17:41197693-41198010
GRCh38:
Chr17:43045676-43045993
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenicno assertion criteria provided
15.
GRCh37:
Chr17:41197694-41209068
GRCh38:
Chr17:43045677-43057051
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 2, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr17:41197694-41199659
GRCh38:
Chr17:43045677-43047642
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 2, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr17:41197694-41201137
GRCh38:
Chr17:43045677-43049120
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 2, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr17:41197694-41215349
GRCh38:
Chr17:43045677-43063332
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 2, 2015)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:41197694-41222944
GRCh38:
Chr17:43045677-43070927
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 2, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr17:41197694-41219711
GRCh38:
Chr17:43045677-43067694
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 2, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr17:41197694-41199720
GRCh38:
Chr17:43045677-43047703
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Jul 18, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr17:41197695-41203134
GRCh38:
Chr17:43045678-43051117
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Oct 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr17:41197709
GRCh38:
Chr17:43045692
BRCA1H1813fs, H1860fs, H1881fs, H756fsnot providedLikely pathogenic
(Jan 5, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr17:41197718-41197730
GRCh38:
Chr17:43045701-43045713
BRCA1Y1806fs, Y1874fs, Y749fs, Y1853fsHereditary breast ovarian cancer syndromeLikely pathogenic
(Jul 14, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr17:41197718
GRCh38:
Chr17:43045701
BRCA1Q1857fs, Q1810fs, Q1878fs, Q753fsHereditary cancer-predisposing syndrome, not provided, Hereditary breast ovarian cancer syndrome
Likely pathogenic
(May 10, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:41197723-41197784
GRCh38:
Chr17:43045706-43045767
BRCA1R1856fs, R1835fs, R731fs, R1788fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Apr 22, 2016)
reviewed by expert panel
27.
GRCh37:
Chr17:41197724
GRCh38:
Chr17:43045707
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Jun 12, 2000)
no assertion criteria provided
28.
GRCh37:
Chr17:41197725-41197726
GRCh38:
Chr17:43045708-43045709
BRCA1I1876fs, I1808fs, I1855fs, I751fsHereditary breast ovarian cancer syndromeLikely pathogenic
(Aug 2, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr17:41197727
GRCh38:
Chr17:43045710
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
30.
GRCh37:
Chr17:41197727-41197731
GRCh38:
Chr17:43045710-43045714
BRCA1Y1853fs, Y1806fs, Y1874fs, Y749fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
31.
GRCh37:
Chr17:41197728
GRCh38:
Chr17:43045711
BRCA1Y1853*, Y749*, Y1874*, Y1806*, Y1556*, Y1741*, Y1763*, Y1764*, Y1782*, Y1805*, Y1827*, Y1834*, Y1849*, Y1873*, Y441*, Y573*, Y640*, Y661*, Y680*, Y746*, Y748*, Y772*, Y1740*, Y1742*, Y1781*, Y1784*, Y1785*, Y1804*, Y1809*, Y1810*, Y1833*, Y1848*, Y623*, Y637*, Y641*, Y668*, Y679*, Y701*, Y708*, Y709*, Y1684*, Y1699*, Y1724*, Y1725*, Y1765*, Y1783*, Y1786*, Y1851*, Y1852*, Y660*, Y662*, Y670*, Y678*, Y702*, Y703*, Y707*, Y711*, Y723*, Y724*, Y747*, Y750*, Y771*, Y985*, Y1557*, Y1726*, Y1769*, Y1811*, Y1812*, Y1825*, Y1826*, Y1850*, Y1875*, Y582*, Y622*, Y636*, Y682*, Y683*, Y705*, Y710*, Y725*, Y984*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
32.
GRCh37:
Chr17:41197728
GRCh38:
Chr17:43045711
BRCA1Y1853*, Y1806*, Y1874*, Y749*, Y1556*, Y1557*, Y1742*, Y1781*, Y1784*, Y1805*, Y1809*, Y1810*, Y1826*, Y1850*, Y1852*, Y660*, Y678*, Y680*, Y682*, Y725*, Y771*, Y1726*, Y1741*, Y1769*, Y1782*, Y1812*, Y1825*, Y1833*, Y1849*, Y1875*, Y623*, Y640*, Y662*, Y670*, Y701*, Y705*, Y707*, Y709*, Y711*, Y746*, Y748*, Y750*, Y984*, Y1684*, Y1699*, Y1725*, Y1764*, Y1785*, Y1786*, Y1811*, Y1848*, Y1851*, Y441*, Y582*, Y636*, Y679*, Y702*, Y703*, Y724*, Y747*, Y1724*, Y1740*, Y1763*, Y1765*, Y1783*, Y1804*, Y1827*, Y1834*, Y1873*, Y573*, Y622*, Y637*, Y641*, Y661*, Y668*, Y683*, Y708*, Y710*, Y723*, Y772*, Y985*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
33.
GRCh37:
Chr17:41197728-41197729
GRCh38:
Chr17:43045711-43045712
BRCA1Y1853*, Y1806*, Y1874*, Y749*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
34.
GRCh37:
Chr17:41197729
GRCh38:
Chr17:43045712
BRCA1Y1853S, Y749S, Y1806S, Y1874S, Y1556S, Y1725S, Y1726S, Y1763S, Y1769S, Y1781S, Y1782S, Y1783S, Y1785S, Y1805S, Y1826S, Y1848S, Y1849S, Y637S, Y641S, Y670S, Y679S, Y702S, Y703S, Y708S, Y711S, Y725S, Y771S, Y985S, Y1699S, Y1765S, Y1812S, Y1850S, Y1851S, Y636S, Y640S, Y662S, Y668S, Y678S, Y680S, Y701S, Y723S, Y746S, Y747S, Y1557S, Y1742S, Y1784S, Y1811S, Y1833S, Y1873S, Y622S, Y623S, Y661S, Y683S, Y709S, Y724S, Y748S, Y750S, Y1684S, Y1724S, Y1740S, Y1741S, Y1764S, Y1786S, Y1804S, Y1809S, Y1810S, Y1825S, Y1827S, Y1834S, Y1852S, Y1875S, Y441S, Y573S, Y582S, Y660S, Y682S, Y705S, Y707S, Y710S, Y772S, Y984SHereditary cancer-predisposing syndromeLikely pathogenic
(Sep 10, 2020)
criteria provided, single submitter
35.
GRCh37:
Chr17:41197729-41197733
GRCh38:
Chr17:43045712-43045716
BRCA1T1852fs, T1805fs, T1873fs, T748fsHereditary cancer-predisposing syndromePathogenic
(Feb 4, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr17:41197729
GRCh38:
Chr17:43045712
BRCA1Y1853C, Y1806C, Y749C, Y1874C, Y1556C, Y1557C, Y1699C, Y1740C, Y1741C, Y1742C, Y1784C, Y1765C, Y1783C, Y1811C, Y1825C, Y1827C, Y1849C, Y1852C, Y441C, Y636C, Y640C, Y668C, Y670C, Y679C, Y683C, Y709C, Y710C, Y724C, Y746C, Y771C, Y772C, Y1785C, Y1805C, Y1809C, Y1810C, Y1826C, Y1850C, Y573C, Y622C, Y661C, Y680C, Y682C, Y701C, Y703C, Y711C, Y725C, Y748C, Y750C, Y985C, Y1724C, Y1781C, Y1782C, Y1786C, Y1812C, Y1833C, Y1873C, Y1875C, Y582C, Y623C, Y641C, Y660C, Y702C, Y705C, Y747C, Y1684C, Y1725C, Y1726C, Y1763C, Y1764C, Y1769C, Y1804C, Y1834C, Y1848C, Y1851C, Y637C, Y662C, Y678C, Y707C, Y708C, Y723C, Y984CHereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, not provided
Pathogenic/Likely pathogenic
(May 31, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr17:41197730
GRCh38:
Chr17:43045713
BRCA1Y1806fs, Y1853fs, Y1874fs, Y749fsBreast-ovarian cancer, familial, susceptibility to, 1Likely pathogenic
(Feb 3, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr17:41197730
GRCh38:
Chr17:43045713
BRCA1Y1806H, Y1853H, Y1874H, Y749H, Y1684H, Y1765H, Y1784H, Y1810H, Y1825H, Y1827H, Y1873H, Y441H, Y670H, Y679H, Y724H, Y1726H, Y1741H, Y1783H, Y1785H, Y1809H, Y1811H, Y1826H, Y1852H, Y573H, Y582H, Y637H, Y641H, Y668H, Y682H, Y702H, Y708H, Y771H, Y984H, Y1724H, Y1740H, Y1764H, Y1769H, Y1781H, Y1786H, Y1804H, Y1805H, Y1834H, Y1848H, Y1851H, Y1875H, Y623H, Y636H, Y660H, Y680H, Y705H, Y709H, Y746H, Y747H, Y748H, Y1556H, Y1557H, Y1699H, Y1725H, Y1742H, Y1763H, Y1782H, Y1812H, Y1833H, Y1849H, Y1850H, Y622H, Y640H, Y661H, Y662H, Y678H, Y683H, Y701H, Y703H, Y707H, Y710H, Y711H, Y723H, Y725H, Y750H, Y772H, Y985HHereditary breast ovarian cancer syndromeLikely pathogenic
(Sep 1, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr17:41197731-41197750
GRCh38:
Chr17:43045714-43045733
BRCA1Q1799fs, Q1846fs, Q742fs, Q1867fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
40.
GRCh37:
Chr17:41197732-41197733
GRCh38:
Chr17:43045715-43045716
BRCA1T1852fs, T1805fs, T748fs, T1873fsHereditary breast ovarian cancer syndromePathogenic
(Aug 2, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr17:41197733-41197734
GRCh38:
Chr17:43045716-43045717
BRCA1T748fs, T1852fs, T1805fs, T1873fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
42.
GRCh37:
Chr17:41197736
GRCh38:
Chr17:43045719
BRCA1D1851fs, D747fs, D1804fs, D1872fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
43.
GRCh37:
Chr17:41197739
GRCh38:
Chr17:43045722
BRCA1L1803fs, L1850fs, L1871fs, L746fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
44.
GRCh37:
Chr17:41197742
GRCh38:
Chr17:43045725
BRCA1E1870*, E1802*, E1849*, E745*, E1553*, E1680*, E1720*, E1738*, E1759*, E1761*, E1782*, E1805*, E1821*, E1830*, E1845*, E1871*, E619*, E633*, E657*, E658*, E664*, E666*, E675*, E678*, E707*, E981*, E1721*, E1736*, E1737*, E1760*, E1777*, E1779*, E1780*, E1806*, E1807*, E1822*, E1846*, E1848*, E1869*, E578*, E632*, E697*, E703*, E705*, E721*, E743*, E744*, E768*, E980*, E1552*, E1695*, E1722*, E1823*, E1829*, E618*, E636*, E656*, E674*, E679*, E699*, E706*, E719*, E720*, E767*, E1765*, E1778*, E1781*, E1800*, E1801*, E1808*, E1844*, E1847*, E437*, E569*, E637*, E676*, E698*, E701*, E704*, E742*, E746*Hereditary cancer-predisposing syndromeLikely pathogenic
(Dec 27, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr17:41197742-41197744
GRCh38:
Chr17:43045725-43045727
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Likely pathogenicno assertion criteria provided
46.
GRCh37:
Chr17:41197745
GRCh38:
Chr17:43045728
BRCA1Q1848*, Q1801*, Q1869*, Q744*, Q1551*, Q1679*, Q1719*, Q1737*, Q1759*, Q1777*, Q1778*, Q1780*, Q1804*, Q1807*, Q1820*, Q1821*, Q1844*, Q1847*, Q1868*, Q577*, Q618*, Q636*, Q706*, Q719*, Q766*, Q767*, Q1694*, Q1721*, Q1735*, Q1736*, Q1758*, Q1764*, Q1776*, Q1799*, Q1828*, Q1843*, Q568*, Q631*, Q632*, Q665*, Q677*, Q678*, Q698*, Q704*, Q741*, Q745*, Q979*, Q1552*, Q1779*, Q1781*, Q1800*, Q1805*, Q1846*, Q635*, Q657*, Q663*, Q673*, Q696*, Q697*, Q700*, Q703*, Q720*, Q742*, Q980*, Q1720*, Q1760*, Q1806*, Q1822*, Q1829*, Q1845*, Q1870*, Q436*, Q617*, Q655*, Q656*, Q674*, Q675*, Q702*, Q705*, Q718*, Q743*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
47.
GRCh37:
Chr17:41197746
GRCh38:
Chr17:43045729
BRCA1C1847*, C1800*, C1868*, C743*, C1678*, C1719*, C1720*, C1734*, C1735*, C1736*, C1758*, C1777*, C1780*, C1803*, C1804*, C1806*, C1820*, C1827*, C1828*, C1867*, C631*, C664*, C673*, C676*, C699*, C701*, C705*, C744*, C978*, C979*, C1551*, C1776*, C1778*, C1779*, C1819*, C1843*, C1844*, C616*, C695*, C717*, C740*, C741*, C1550*, C1718*, C1763*, C1805*, C567*, C617*, C634*, C655*, C662*, C674*, C677*, C696*, C704*, C719*, C742*, C766*, C630*, C635*, C654*, C656*, C672*, C697*, C702*, C703*, C718*, C765*, C1693*, C1757*, C1759*, C1775*, C1798*, C1799*, C1821*, C1842*, C1845*, C1846*, C1869*, C435*, C576*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
48.
GRCh37:
Chr17:41197748-41197753
GRCh38:
Chr17:43045731-43045736
BRCA1Y1798fs, Y1845fs, Y1866fs, Y741fsBreast-ovarian cancer, familial, susceptibility to, 1Likely pathogenic
(Apr 1, 2020)
criteria provided, single submitter
49.
GRCh37:
Chr17:41197748-41197753
GRCh38:
Chr17:43045731-43045736
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 23, 2003)
no assertion criteria provided
50.
GRCh37:
Chr17:41197751
GRCh38:
Chr17:43045734
BRCA1Q1867fs, Q742fs, Q1846fs, Q1799fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
51.
GRCh37:
Chr17:41197751
GRCh38:
Chr17:43045734
BRCA1Q1846*, Q1867*, Q1799*, Q742*, Q1719*, Q1733*, Q1734*, Q1775*, Q1797*, Q1805*, Q1819*, Q1826*, Q1827*, Q1842*, Q1868*, Q434*, Q566*, Q629*, Q630*, Q654*, Q671*, Q676*, Q700*, Q701*, Q703*, Q717*, Q718*, Q740*, Q978*, Q1717*, Q1718*, Q1756*, Q1757*, Q1758*, Q1779*, Q1798*, Q1803*, Q1820*, Q1843*, Q575*, Q615*, Q634*, Q653*, Q655*, Q672*, Q673*, Q696*, Q739*, Q764*, Q1549*, Q1677*, Q1762*, Q1774*, Q1776*, Q1802*, Q1804*, Q1818*, Q1841*, Q1844*, Q1845*, Q694*, Q695*, Q702*, Q704*, Q765*, Q977*, Q1550*, Q1692*, Q1735*, Q1777*, Q1778*, Q1866*, Q616*, Q633*, Q661*, Q663*, Q675*, Q698*, Q716*, Q741*, Q743*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
52.
GRCh37:
Chr17:41197752
GRCh38:
Chr17:43045735
BRCA1Y1845*, Y1798*, Y741*, Y1866*, Y1676*, Y1717*, Y1761*, Y1797*, Y1802*, Y1818*, Y1841*, Y433*, Y614*, Y632*, Y652*, Y671*, Y674*, Y693*, Y697*, Y699*, Y701*, Y702*, Y763*, Y977*, Y1549*, Y1733*, Y1734*, Y1755*, Y1757*, Y1775*, Y1776*, Y1801*, Y1817*, Y1826*, Y1843*, Y1844*, Y1865*, Y565*, Y629*, Y654*, Y660*, Y670*, Y672*, Y694*, Y695*, Y703*, Y717*, Y738*, Y764*, Y1718*, Y1756*, Y1774*, Y1796*, Y1804*, Y1825*, Y1842*, Y662*, Y715*, Y742*, Y976*, Y1803*, Y1819*, Y1840*, Y1867*, Y574*, Y615*, Y628*, Y633*, Y653*, Y675*, Y700*, Y716*, Y739*, Y740*, Y1548*, Y1691*, Y1716*, Y1732*, Y1773*, Y1777*, Y1778*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
53.
GRCh37:
Chr17:41197752
GRCh38:
Chr17:43045735
BRCA1Y1845*, Y1798*, Y1866*, Y741*, Y1676*, Y1717*, Y1755*, Y1801*, Y1802*, Y1804*, Y1825*, Y1826*, Y1842*, Y565*, Y629*, Y632*, Y662*, Y675*, Y694*, Y695*, Y701*, Y703*, Y716*, Y977*, Y1548*, Y1549*, Y1718*, Y1797*, Y1803*, Y1819*, Y1841*, Y1865*, Y1867*, Y433*, Y652*, Y660*, Y674*, Y738*, Y740*, Y763*, Y976*, Y1732*, Y1733*, Y1734*, Y1756*, Y1774*, Y1776*, Y1777*, Y1778*, Y1817*, Y1818*, Y1843*, Y1844*, Y614*, Y693*, Y697*, Y699*, Y700*, Y717*, Y742*, Y1691*, Y1716*, Y1757*, Y1761*, Y1773*, Y1775*, Y1796*, Y1840*, Y574*, Y615*, Y628*, Y633*, Y653*, Y654*, Y670*, Y671*, Y672*, Y702*, Y715*, Y739*, Y764*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
54.
GRCh37:
Chr17:41197753-41197754
GRCh38:
Chr17:43045736-43045737
BRCA1Y1798*, Y1845*, Y1866*, Y741*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
55.
GRCh37:
Chr17:41197753
GRCh38:
Chr17:43045736
BRCA1Y1866fs, Y1798fs, Y741fs, Y1845fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
56.
GRCh37:
Chr17:41197753-41197754
GRCh38:
Chr17:43045736-43045737
BRCA1Y1798fs, Y1845fs, Y1866fs, Y741fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
57.
GRCh37:
Chr17:41197754-41197755
GRCh38:
Chr17:43045737-43045738
BRCA1Y1845fs, Y741fs, Y1866fs, Y1798fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
58.
GRCh37:
Chr17:41197756-41197763
GRCh38:
Chr17:43045739-43045746
BRCA1V1842fs, V1795fs, V738fs, V1863fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
59.
GRCh37:
Chr17:41197760
GRCh38:
Chr17:43045743
BRCA1A1843P, A1796P, A739P, A1864P, A1754P, A1801P, A1815P, A1817P, A1841P, A431P, A572P, A627P, A650P, A651P, A658P, A668P, A693P, A698P, A737P, A1730P, A1731P, A1773P, A1795P, A1863P, A631P, A660P, A672P, A691P, A699P, A740P, A762P, A1674P, A1714P, A1732P, A1772P, A1774P, A1775P, A1794P, A1800P, A1824P, A1840P, A1865P, A563P, A626P, A652P, A673P, A692P, A697P, A700P, A715P, A974P, A1546P, A1547P, A1689P, A1715P, A1716P, A1753P, A1755P, A1759P, A1771P, A1776P, A1799P, A1802P, A1816P, A1823P, A1838P, A1839P, A1842P, A612P, A613P, A630P, A669P, A670P, A695P, A701P, A713P, A714P, A736P, A738P, A761P, A975PHereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndromeLikely pathogenic
(Aug 13, 2018)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:41197761-41197787
GRCh38:
Chr17:43045744-43045770
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Aug 20, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr17:41197762
GRCh38:
Chr17:43045745
BRCA1V1863fs, V1795fs, V738fs, V1842fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
62.
GRCh37:
Chr17:41197765
GRCh38:
Chr17:43045748
BRCA1S1794I, S1841I, S1862I, S737I, S1672I, S1687I, S1713I, S1751I, S1770I, S1797I, S1799I, S1800I, S1822I, S1837I, S561I, S624I, S625I, S648I, S668I, S691I, S693I, S711I, S712I, S735I, S972I, S736I, S1544I, S1714I, S1728I, S1771I, S1793I, S1814I, S1815I, S667I, S671I, S689I, S696I, S699I, S713I, S973I, S1545I, S1712I, S1753I, S1757I, S1772I, S1773I, S1792I, S1798I, S1813I, S1839I, S1861I, S1863I, S570I, S610I, S611I, S629I, S649I, S650I, S656I, S666I, S690I, S695I, S697I, S734I, S1729I, S1730I, S1752I, S1769I, S1774I, S1821I, S1836I, S1838I, S1840I, S429I, S628I, S658I, S670I, S698I, S738I, S759I, S760IHereditary breast ovarian cancer syndromeLikely pathogenic
(Apr 1, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr17:41197766-41197767
GRCh38:
Chr17:43045749-43045750
BRCA1Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 2, 2015)
criteria provided, single submitter
64.
GRCh37:
Chr17:41197766
GRCh38:
Chr17:43045749
BRCA1S1794fs, S1841fs, S737fs, S1862fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
65.
GRCh37:
Chr17:41197766
GRCh38:
Chr17:43045749
BRCA1S1841R, S1862R, S737R, S1794R, S1544R, S1687R, S1714R, S1770R, S1773R, S1774R, S1840R, S1863R, S610R, S611R, S628R, S656R, S670R, S699R, S712R, S734R, S1545R, S1712R, S1728R, S1753R, S1757R, S1772R, S1793R, S1797R, S1814R, S1822R, S1836R, S1837R, S625R, S648R, S649R, S668R, S671R, S695R, S696R, S698R, S713R, S736R, S760R, S735R, S759R, S1672R, S1713R, S1730R, S1751R, S1771R, S1792R, S1800R, S1838R, S429R, S561R, S570R, S650R, S666R, S693R, S697R, S973R, S1729R, S1752R, S1769R, S1798R, S1799R, S1813R, S1815R, S1821R, S1839R, S1861R, S624R, S629R, S658R, S667R, S689R, S690R, S691R, S711R, S738R, S972RHereditary breast ovarian cancer syndromeLikely pathogenic
(Oct 5, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr17:41197769-41197770
GRCh38:
Chr17:43045752-43045753
BRCA1D1793fs, D1840fs, D1861fs, D736fsHereditary breast ovarian cancer syndromeLikely pathogenic
(Jan 5, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr17:41197769
GRCh38:
Chr17:43045752
BRCA1D1840fs, D1793fs, D1861fs, D736fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
68.
GRCh37:
Chr17:41197771
GRCh38:
Chr17:43045754
BRCA1L1839fs, L1792fs, L1860fs, L735fsHereditary breast ovarian cancer syndromePathogenic
(Sep 1, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr17:41197771
GRCh38:
Chr17:43045754
BRCA1L1839S, L1792S, L735S, L1860S, L1728S, L1751S, L1770S, L1837S, L427S, L609S, L626S, L627S, L656S, L669S, L688S, L695S, L733S, L757S, L758S, L970S, L1542S, L1749S, L1767S, L1771S, L1772S, L1795S, L1797S, L1813S, L1820S, L1834S, L646S, L664S, L689S, L710S, L734S, L736S, L1670S, L1710S, L1711S, L1726S, L1768S, L1791S, L1819S, L1543S, L1685S, L1712S, L1727S, L1750S, L1755S, L1769S, L1790S, L1796S, L1798S, L1811S, L1812S, L1836S, L1838S, L608S, L623S, L647S, L648S, L654S, L665S, L668S, L687S, L691S, L697S, L709S, L971S, L1835S, L1859S, L1861S, L559S, L568S, L622S, L666S, L693S, L694S, L696S, L711S, L732SBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Jun 18, 2019)
reviewed by expert panel
70.
GRCh37:
Chr17:41197773
GRCh38:
Chr17:43045756
BRCA1L1792fs, L1860fs, L1839fs, L735fsHereditary breast ovarian cancer syndromePathogenic
(Aug 30, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr17:41197774
GRCh38:
Chr17:43045757
BRCA1V1838G, V1859G, V1791G, V734G, V1711G, V1726G, V1748G, V1767G, V1768G, V1790G, V1810G, V1811G, V1833G, V1858G, V1860G, V426G, V622G, V645G, V655G, V688G, V690G, V695G, V696G, V709G, V710G, V733G, V970G, V1669G, V1754G, V1770G, V1771G, V1797G, V1812G, V1836G, V607G, V621G, V647G, V692G, V694G, V731G, V1542G, V1684G, V1709G, V1749G, V1750G, V1789G, V1794G, V1795G, V1819G, V1834G, V626G, V664G, V667G, V668G, V708G, V757G, V969G, V1541G, V1710G, V1725G, V1727G, V1766G, V1769G, V1796G, V1818G, V1835G, V1837G, V558G, V567G, V608G, V625G, V646G, V653G, V663G, V665G, V686G, V687G, V693G, V732G, V735G, V756GBreast-ovarian cancer, familial, susceptibility to, 1Likely pathogenic
(Jul 1, 2015)
criteria provided, single submitter
72.
GRCh37:
Chr17:41197774
GRCh38:
Chr17:43045757
BRCA1V1838E, V1859E, V734E, V1791E, V1669E, V1684E, V1749E, V1750E, V1771E, V1789E, V1795E, V1797E, V1812E, V1858E, V426E, V607E, V625E, V645E, V646E, V668E, V687E, V695E, V756E, V969E, V1541E, V1725E, V1766E, V1770E, V1790E, V1794E, V1811E, V1819E, V1836E, V1837E, V558E, V621E, V626E, V647E, V653E, V655E, V688E, V709E, V731E, V733E, V735E, V1542E, V1711E, V1726E, V1727E, V1767E, V1768E, V1769E, V1796E, V1833E, V1834E, V1860E, V567E, V664E, V686E, V693E, V710E, V757E, V970E, V1709E, V1710E, V1748E, V1754E, V1810E, V1818E, V1835E, V608E, V622E, V663E, V665E, V667E, V690E, V692E, V694E, V696E, V708E, V732EBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Aug 10, 2015)
reviewed by expert panel
73.
GRCh37:
Chr17:41197775
GRCh38:
Chr17:43045758
BRCA1V1859fs, V1838fs, V1791fs, V734fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
74.
GRCh37:
Chr17:41197776-41197777
GRCh38:
Chr17:43045759-43045760
BRCA1W1790S, W1837S, W1858S, W733S, W1683S, W1770S, W1793S, W1794S, W1796S, W1811S, W1834S, W1857S, W1859S, W425S, W557S, W620S, W652S, W666S, W667S, W687S, W689S, W692S, W695S, W969S, W1540S, W1668S, W1710S, W1747S, W1748S, W1766S, W1767S, W1809S, W1835S, W621S, W625S, W663S, W685S, W691S, W694S, W732S, W1708S, W1724S, W1725S, W1726S, W1749S, W1753S, W1769S, W1788S, W1789S, W1795S, W1810S, W1818S, W1832S, W1833S, W1836S, W566S, W606S, W624S, W644S, W645S, W662S, W664S, W686S, W708S, W709S, W730S, W755S, W1541S, W1709S, W1765S, W1768S, W1817S, W607S, W646S, W654S, W693S, W707S, W731S, W734S, W756S, W968SHereditary breast ovarian cancer syndromeLikely pathogenic
(Aug 12, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr17:41197776
GRCh38:
Chr17:43045759
BRCA1W1837C, W1790C, W733C, W1858C, W1540C, W1709C, W1724C, W1753C, W1766C, W1788C, W1789C, W1796C, W1833C, W566C, W689C, W691C, W708C, W731C, W755C, W968C, W1541C, W1726C, W1748C, W1767C, W1795C, W1809C, W1817C, W1818C, W1857C, W1859C, W621C, W662C, W663C, W666C, W693C, W694C, W707C, W709C, W734C, W969C, W1668C, W1683C, W1725C, W1747C, W1770C, W1793C, W1810C, W1832C, W1835C, W645C, W646C, W664C, W695C, W732C, W756C, W1708C, W1710C, W1749C, W1765C, W1768C, W1769C, W1794C, W1811C, W1834C, W1836C, W425C, W557C, W606C, W607C, W620C, W624C, W625C, W644C, W652C, W654C, W667C, W685C, W686C, W687C, W692C, W730Cnot provided, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:41197776-41197789
GRCh38:
Chr17:43045759-43045772
BRCA1V1786fs, V1833fs, V729fs, V1854fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
77.
GRCh37:
Chr17:41197776
GRCh38:
Chr17:43045759
BRCA1W1837*, W1790*, W1858*, W733*, W1668*, W1709*, W1710*, W1724*, W1747*, W1766*, W1767*, W1768*, W1796*, W1811*, W1833*, W566*, W606*, W624*, W646*, W663*, W687*, W695*, W707*, W709*, W730*, W734*, W969*, W1540*, W1725*, W1770*, W1788*, W1836*, W607*, W620*, W625*, W644*, W664*, W685*, W691*, W692*, W708*, W756*, W968*, W1749*, W1769*, W1795*, W1832*, W1857*, W1859*, W557*, W654*, W662*, W666*, W693*, W694*, W731*, W1541*, W1683*, W1708*, W1726*, W1748*, W1753*, W1765*, W1789*, W1793*, W1794*, W1809*, W1810*, W1817*, W1818*, W1834*, W1835*, W425*, W621*, W645*, W652*, W667*, W686*, W689*, W732*, W755*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
78.
GRCh37:
Chr17:41197776
GRCh38:
Chr17:43045759
BRCA1W1837C, W1790C, W733C, W1858C, W1541C, W1708C, W1724C, W1725C, W1726C, W1768C, W1788C, W1793C, W1809C, W1811C, W1818C, W606C, W607C, W646C, W652C, W654C, W662C, W663C, W664C, W667C, W686C, W689C, W692C, W695C, W734C, W755C, W756C, W1709C, W1710C, W1748C, W1749C, W1789C, W1794C, W1795C, W1835C, W1857C, W566C, W624C, W694C, W968C, W1683C, W1747C, W1765C, W1766C, W1769C, W1833C, W1834C, W557C, W620C, W625C, W644C, W685C, W691C, W707C, W708C, W709C, W730C, W1540C, W1668C, W1753C, W1767C, W1770C, W1796C, W1810C, W1817C, W1832C, W1836C, W1859C, W425C, W621C, W645C, W666C, W687C, W693C, W731C, W732C, W969CHereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndromePathogenic/Likely pathogenic
(Aug 13, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:41197777-41197778
GRCh38:
Chr17:43045760-43045761
BRCA1W1790fs, W1858fs, W733fs, W1837fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
80.
GRCh37:
Chr17:41197777-41197801
GRCh38:
Chr17:43045760-43045784
BRCA1E1782fs, E1829fs, E1850fs, E725fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
81.
GRCh37:
Chr17:41197777
GRCh38:
Chr17:43045760
BRCA1W1837*, W733*, W1858*, W1790*, W1708*, W1709*, W1725*, W1747*, W1768*, W1796*, W1811*, W1833*, W620*, W621*, W624*, W645*, W664*, W666*, W667*, W687*, W695*, W707*, W708*, W730*, W1668*, W1748*, W1749*, W1766*, W1769*, W1789*, W1817*, W1836*, W1857*, W425*, W606*, W663*, W731*, W756*, W968*, W969*, W1541*, W1710*, W1724*, W1726*, W1765*, W1770*, W1788*, W1793*, W1794*, W1809*, W1810*, W1834*, W1859*, W566*, W607*, W625*, W644*, W654*, W662*, W686*, W689*, W692*, W732*, W755*, W1540*, W1683*, W1753*, W1767*, W1795*, W1818*, W1832*, W1835*, W557*, W646*, W652*, W685*, W691*, W693*, W694*, W709*, W734*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
82.
GRCh37:
Chr17:41197778
GRCh38:
Chr17:43045761
BRCA1W1790R, W733R, W1837R, W1858R, W1540R, W1708R, W1725R, W1747R, W1748R, W1793R, W1795R, W1796R, W1811R, W1835R, W557R, W566R, W646R, W662R, W666R, W685R, W687R, W730R, W734R, W755R, W756R, W1541R, W1710R, W1726R, W1765R, W1766R, W1769R, W1770R, W1809R, W1817R, W1818R, W1859R, W625R, W645R, W664R, W667R, W689R, W692R, W694R, W969R, W1668R, W1683R, W1709R, W1724R, W1749R, W1753R, W1768R, W1788R, W1789R, W1833R, W1834R, W1836R, W621R, W644R, W686R, W695R, W708R, W968R, W663R, W691R, W693R, W707R, W709R, W731R, W732R, W1767R, W1794R, W1810R, W1832R, W1857R, W425R, W606R, W607R, W620R, W624R, W652R, W654RHereditary breast ovarian cancer syndromePathogenic
(Aug 24, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr17:41197778
GRCh38:
Chr17:43045761
BRCA1W1837G, W1790G, W1858G, W733G, W1541G, W1710G, W1725G, W1749G, W1753G, W1765G, W1768G, W1770G, W1789G, W606G, W624G, W625G, W689G, W691G, W693G, W707G, W730G, W731G, W732G, W755G, W1540G, W1708G, W1726G, W1747G, W1769G, W1788G, W1810G, W1811G, W1817G, W1834G, W1835G, W620G, W621G, W644G, W652G, W666G, W667G, W694G, W708G, W734G, W756G, W969G, W1683G, W1724G, W1766G, W1794G, W1796G, W1836G, W1857G, W607G, W663G, W664G, W686G, W687G, W692G, W709G, W1668G, W1709G, W1748G, W1767G, W1793G, W1795G, W1809G, W1818G, W1832G, W1833G, W1859G, W425G, W557G, W566G, W645G, W646G, W654G, W662G, W685G, W695G, W968GHereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndromePathogenic/Likely pathogenic
(Oct 8, 2021)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr17:41197778
GRCh38:
Chr17:43045761
BRCA1W1837R, W733R, W1858R, W1790R, W1540R, W1541R, W1725R, W1747R, W1766R, W1768R, W1794R, W1817R, W425R, W621R, W624R, W625R, W646R, W662R, W663R, W685R, W691R, W707R, W731R, W1668R, W1683R, W1724R, W1765R, W1770R, W1789R, W1795R, W1796R, W1809R, W1810R, W1832R, W1857R, W1859R, W557R, W606R, W666R, W667R, W687R, W692R, W730R, W734R, W1708R, W1709R, W1710R, W1726R, W1767R, W1788R, W1818R, W1833R, W566R, W607R, W644R, W652R, W664R, W686R, W693R, W694R, W695R, W708R, W732R, W1748R, W1749R, W1753R, W1769R, W1793R, W1811R, W1834R, W1835R, W1836R, W620R, W645R, W654R, W689R, W709R, W755R, W756R, W968R, W969RBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Jun 18, 2019)
reviewed by expert panel
85.
GRCh37:
Chr17:41197781-41197784
GRCh38:
Chr17:43045764-43045767
BRCA1R1835fs, R1856fs, R1788fs, R731fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
86.
GRCh37:
Chr17:41197781
GRCh38:
Chr17:43045764
BRCA1E1836*, E732*, E1857*, E1789*, E1539*, E1708*, E1709*, E1746*, E1747*, E1764*, E1787*, E1793*, E1832*, E424*, E565*, E619*, E645*, E651*, E663*, E690*, E708*, E733*, E1667*, E1724*, E1725*, E1752*, E1765*, E1767*, E1788*, E1816*, E1831*, E1834*, E1858*, E620*, E623*, E624*, E653*, E684*, E686*, E692*, E706*, E707*, E729*, E967*, E1540*, E1707*, E1766*, E1768*, E1792*, E1795*, E1809*, E1817*, E556*, E605*, E643*, E644*, E662*, E685*, E688*, E691*, E731*, E755*, E968*, E1682*, E1723*, E1748*, E1769*, E1794*, E1808*, E1810*, E1833*, E1835*, E1856*, E606*, E661*, E665*, E666*, E693*, E694*, E730*, E754*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
87.
GRCh37:
Chr17:41197781-41197790
GRCh38:
Chr17:43045764-43045773
BRCA1V729fs, V1786fs, V1833fs, V1854fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
88.
GRCh37:
Chr17:41197781-41197791
GRCh38:
Chr17:43045764-43045774
BRCA1V1786fs, V1833fs, V1854fs, V729fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
89.
GRCh37:
Chr17:41197783-41197784
GRCh38:
Chr17:43045766-43045767
BRCA1R1856fs, R1788fs, R1835fs, R731fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
90.
GRCh37:
Chr17:41197783-41197784
GRCh38:
Chr17:43045766-43045767
BRCA1R1788fs, R731fs, R1835fs, R1856fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
91.
GRCh37:
Chr17:41197784
GRCh38:
Chr17:43045767
BRCA1R1835fs, R1856fs, R1788fs, R731fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
92.
GRCh37:
Chr17:41197784
GRCh38:
Chr17:43045767
BRCA1R1835*, R1856*, R1788*, R731*, R1539*, R1681*, R1706*, R1708*, R1764*, R1808*, R1809*, R1857*, R604*, R605*, R644*, R661*, R687*, R689*, R705*, R753*, R754*, R1666*, R1722*, R1723*, R1745*, R1747*, R1763*, R1766*, R1767*, R1807*, R1816*, R1831*, R1834*, R555*, R564*, R619*, R622*, R623*, R652*, R683*, R684*, R691*, R693*, R706*, R1538*, R1707*, R1724*, R1765*, R1787*, R1791*, R1793*, R1794*, R1815*, R1830*, R1855*, R618*, R642*, R643*, R660*, R662*, R664*, R685*, R729*, R966*, R1746*, R1751*, R1768*, R1786*, R1792*, R1832*, R1833*, R423*, R650*, R665*, R690*, R692*, R707*, R728*, R730*, R732*, R967*Breast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Apr 22, 2016)
reviewed by expert panel
93.
GRCh37:
Chr17:41197788-41197791
GRCh38:
Chr17:43045771-43045774
BRCA1V1854fs, V729fs, V1833fs, V1786fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Apr 22, 2016)
reviewed by expert panel
94.
GRCh37:
Chr17:41197789
GRCh38:
Chr17:43045772
BRCA1V1679G, V1749G, V1762G, V1807G, V1814G, V1830G, V1854G, V1855G, V421G, V562G, V650G, V659G, V685G, V690G, V703G, V726G, V964G, V965G, V1537G, V1664G, V1704G, V1705G, V1706G, V1720G, V1744G, V1761G, V1790G, V1829G, V1831G, V616G, V617G, V620G, V621G, V642G, V662G, V687G, V730G, V1536G, V1722G, V1745G, V1763G, V1764G, V1765G, V1784G, V1785G, V1786G, V1789G, V1791G, V1828G, V1832G, V1853G, V553G, V648G, V660G, V663G, V683G, V688G, V689G, V704G, V729G, V1721G, V1743G, V1766G, V1792G, V1805G, V1806G, V1813G, V1833G, V602G, V603G, V640G, V641G, V658G, V681G, V682G, V691G, V705G, V727G, V728G, V751G, V752GHereditary breast ovarian cancer syndromeLikely pathogenic
(May 9, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr17:41197790
GRCh38:
Chr17:43045773
BRCA1Hereditary breast ovarian cancer syndromePathogenic
(Jul 14, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr17:41197790
GRCh38:
Chr17:43045773
BRCA1V1833M, V1854M, V729M, V1786M, V1536M, V1722M, V1745M, V1761M, V1763M, V1764M, V1765M, V1784M, V1790M, V1807M, V1828M, V1830M, V1831M, V1853M, V553M, V617M, V621M, V642M, V659M, V683M, V689M, V703M, V704M, V752M, V965M, V1537M, V1664M, V1679M, V1720M, V1721M, V1749M, V1813M, V1829M, V1855M, V603M, V640M, V660M, V726M, V964M, V1706M, V1743M, V1744M, V1785M, V1789M, V1806M, V1814M, V1832M, V421M, V602M, V616M, V650M, V663M, V682M, V727M, V751M, V1704M, V1705M, V1762M, V1766M, V1791M, V1792M, V1805M, V562M, V620M, V641M, V648M, V658M, V662M, V681M, V685M, V687M, V688M, V690M, V691M, V705M, V728M, V730MHereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Familial cancer of breast,
not provided, Breast-ovarian cancer, familial, susceptibility to, 1
Pathogenic/Likely pathogenic
(Nov 16, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr17:41197791-41197792
GRCh38:
Chr17:43045774-43045775
BRCA1V1854fs, V1786fs, V729fs, V1833fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Dec 15, 2017)
reviewed by expert panel
98.
GRCh37:
Chr17:41197793-41197794
GRCh38:
Chr17:43045776-43045777
BRCA1V1832fs, V1853fs, V1785fs, V728fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Oct 18, 2016)
reviewed by expert panel
99.
GRCh37:
Chr17:41197795
GRCh38:
Chr17:43045778
BRCA1P1852fs, P1784fs, P727fs, P1831fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Sep 8, 2016)
reviewed by expert panel
100.
GRCh37:
Chr17:41197797-41197809
GRCh38:
Chr17:43045780-43045792
BRCA1D698fs, Q1779fs, Q1826fs, Q1847fs, Q722fsBreast-ovarian cancer, familial, susceptibility to, 1Pathogenic
(Jan 17, 2023)
criteria provided, single submitter
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