"Color Diagnostics, LLC DBA Color Health"[submitter] AND "BRCA1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 441519	NM_007294.4(BRCA1):c.*1271T>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1332042	NM_007294.4(BRCA1):c.*106C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	BRCA1-related condition +1 more	GBenign/Likely benign
Select item 1332352	NM_007294.4(BRCA1):c.*105T>C	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2774822	NM_007294.4(BRCA1):c.*104G>A	BRCA1	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GLikely benign
Select item 928073	NM_007294.4(BRCA1):c.101_103del	BRCA1	Deletion (3 prime UTR variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GUncertain significance
Select item 182099	NM_007294.4(BRCA1):c.*20C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 491024	NM_007294.4(BRCA1):c.*13A>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 923111	NM_007294.4(BRCA1):c.*7C>G	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 377575	NM_007294.4(BRCA1):c.*4C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 141903	NM_007294.4(BRCA1):c.*1C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 924118	NM_007294.4(BRCA1):c.5591G>A (p.Ter1864=)	BRCA1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2774823	NM_007294.4(BRCA1):c.5590T>A (p.Ter1864Arg)	BRCA1	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 631316	NM_007294.4(BRCA1):c.5588A>G (p.Tyr1863Cys)	BRCA1 (Y1863C +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231744	NM_007294.4(BRCA1):c.5587T>G (p.Tyr1863Asp)	BRCA1 (Y1863D +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2774824	NM_007294.4(BRCA1):c.5586C>A (p.His1862Gln)	BRCA1 (H1733Q +80 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 185343	NM_007294.4(BRCA1):c.5586C>T (p.His1862=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55637	NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu)	BRCA1 (H1862L +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 187111	NM_007294.4(BRCA1):c.5571_5579del (p.Gln1857_Pro1859del)	BRCA1	Deletion (inframe_indel +3 more)	BRCA1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 37683	NM_007294.4(BRCA1):c.5578dup (p.His1860fs)	BRCA1 (H756fs +3 more)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 55634	NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)	BRCA1 (P1859R +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 232711	NM_007294.4(BRCA1):c.5574C>T (p.Ile1858=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 186496	NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)	BRCA1 (I1858T +80 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 183951	NM_007294.4(BRCA1):c.5572A>C (p.Ile1858Leu)	BRCA1 (I1858L +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 246518	NM_007294.4(BRCA1):c.5571G>T (p.Gln1857His)	BRCA1 (Q1857H +80 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 921369	NM_007294.4(BRCA1):c.5567C>T (p.Pro1856Leu)	BRCA1 (P1856L +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 409334	NM_007294.4(BRCA1):c.5566C>A (p.Pro1856Thr)	BRCA1 (P1856T +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 55632	NM_007294.4(BRCA1):c.5566C>T (p.Pro1856Ser)	BRCA1 (P1856S +80 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GLikely benign
Select item 184730	NM_007294.4(BRCA1):c.5562G>A (p.Leu1854=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55628	NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)	BRCA1 (Y1853* +3 more)	Duplication (frameshift variant +3 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55627	NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)	BRCA1 (Y1853C +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 55626	NM_007294.4(BRCA1):c.5556C>G (p.Thr1852=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 182174	NM_007294.4(BRCA1):c.5555C>T (p.Thr1852Ile)	BRCA1 (T1852I +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 630989	NM_007294.4(BRCA1):c.5553C>T (p.Asp1851=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 184500	NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 482953	NM_007294.4(BRCA1):c.5547G>A (p.Glu1849=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
Select item 482930	NM_007294.4(BRCA1):c.5538G>C (p.Gln1846His)	BRCA1 (Q1846H +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 55621	NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55616	NM_007294.4(BRCA1):c.5532C>T (p.Leu1844=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 419732	NM_007294.4(BRCA1):c.5531T>C (p.Leu1844Pro)	BRCA1 (L1844P +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 55615	NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)	BRCA1 (L1844R +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 438942	NM_007294.4(BRCA1):c.5529_5530delinsCA (p.Leu1844Ile)	BRCA1 (L1865I +80 more)	Indel (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 631293	NM_007294.4(BRCA1):c.5529A>G (p.Ala1843=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 864970	NM_007294.4(BRCA1):c.5525T>C (p.Val1842Ala)	BRCA1 (V1795A +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 240824	NM_007294.4(BRCA1):c.5523T>C (p.Ser1841=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 423044	NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr)	BRCA1 (S1841T +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 55613	NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)	BRCA1 (S1841N +80 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 868616	NM_007294.4(BRCA1):c.5520C>T (p.Asp1840=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 548201	NM_007294.4(BRCA1):c.5518del (p.Asp1840fs)	BRCA1 (D1840fs +3 more)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 91656	NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)	BRCA1 (L1839S +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 184051	NM_007294.4(BRCA1):c.5514G>T (p.Val1838=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55611	NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu)	BRCA1 (V1838E +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 184981	NM_007294.4(BRCA1):c.5512G>T (p.Val1838Leu)	BRCA1 (V1838L +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 182173	NM_007294.4(BRCA1):c.5512G>A (p.Val1838Met)	BRCA1 (V1838M +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 421244	NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys)	BRCA1 (W1837C +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 37680	NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)	BRCA1 (W1837C +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 37679	NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	BRCA1 (W1837R +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55605	NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)	BRCA1 (E1836K +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 55597	NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)	BRCA1 (V1786fs +3 more)	Indel (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 182172	NM_007294.4(BRCA1):c.5504G>C (p.Arg1835Pro)	BRCA1 (R1835P +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 55604	NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln)	BRCA1 (R1835Q +80 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 55601	NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	BRCA1 (R1835* +80 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 182171	NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile)	BRCA1 (T1834I +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 55598	NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)	BRCA1 (V1833M +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1171791	NM_007294.4(BRCA1):c.5494G>A (p.Val1832Met)	BRCA1 (V1785M +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 142865	NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg)	BRCA1 (P1831R +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 225731	NM_007294.4(BRCA1):c.5485G>A (p.Glu1829Lys)	BRCA1 (E1829K +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 142395	NM_007294.4(BRCA1):c.5481G>A (p.Met1827Ile)	BRCA1 (M1827I +90 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 864922	NM_007294.4(BRCA1):c.5480T>A (p.Met1827Lys)	BRCA1 (M1848K +90 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 630184	NM_007294.4(BRCA1):c.5478G>A (p.Gln1826=)	BRCA1 (D698N +9 more)	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 55591	NM_007294.4(BRCA1):c.5470_5477delATTGGGCA	BRCA1	Deletion (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 868969	NM_007294.4(BRCA1):c.5476C>T (p.Gln1826Ter)	BRCA1 (A697V +90 more)	Single nucleotide variant (nonsense +2 more)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 143005	NM_007294.4(BRCA1):c.5476C>A (p.Gln1826Lys)	BRCA1 (Q1826K +90 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 141804	NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)	BRCA1 (I1824V +90 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 125856	NM_007294.4(BRCA1):c.5468-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 182169	NM_007294.4(BRCA1):c.5468-5T>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 867564	NM_007294.4(BRCA1):c.5468-8G>C	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 867562	NM_007294.4(BRCA1):c.5468-9T>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 91652	NM_007294.4(BRCA1):c.5468-10_5468-9del	BRCA1	Microsatellite (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 55589	NM_007294.4(BRCA1):c.5468-10C>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125854	NM_007294.4(BRCA1):c.5468-17G>A	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 629547	NM_007294.4(BRCA1):c.5468-20C>T	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1172074	NM_007294.4(BRCA1):c.5467+1_5467+16del	BRCA1	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GPathogenic/Likely pathogenic
Select item 864894	NM_007294.4(BRCA1):c.5467+16G>A	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 628791	NM_007294.4(BRCA1):c.5467+15T>C	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 381399	NM_007294.4(BRCA1):c.5467+12G>A	BRCA1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 629015	NM_007294.4(BRCA1):c.5467+9C>A	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 91651	NM_007294.4(BRCA1):c.5467+8G>A	BRCA1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 37673	NM_007294.4(BRCA1):c.5467+1G>A	BRCA1	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GPathogenic/Likely pathogenic
Select item 323421	NM_007294.4(BRCA1):c.5466T>C (p.His1822=)	BRCA1 (C694R +9 more)	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 373823	NM_007294.4(BRCA1):c.5463_5464insT (p.His1822fs)	BRCA1 (H1775fs +4 more)	Insertion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 91650	NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser)	BRCA1 (G1820S +90 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 55585	NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser)	BRCA1 (N1819S +80 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 489734	NM_007294.4(BRCA1):c.5454C>T (p.Asp1818=)	BRCA1 (Q690* +9 more)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 37672	NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)	BRCA1 (D1818G +80 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GPathogenic/Likely pathogenic
Select item 631079	NM_007294.4(BRCA1):c.5447C>A (p.Thr1816Lys)	BRCA1 (T1816K +90 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 55581	NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)	BRCA1 (W1815* +90 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 566786	NM_007294.4(BRCA1):c.5444G>C (p.Trp1815Ser)	BRCA1 (W1815S +80 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GUncertain significance
Select item 55580	NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)	BRCA1 (W1815* +80 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 825736	NM_007294.4(BRCA1):c.5441C>A (p.Ala1814Asp)	BRCA1 (A1767D +90 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 230363	NM_007294.4(BRCA1):c.5439T>C (p.Asp1813=)	BRCA1 (C685R +9 more)	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign

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