List of variants in gene BRCA1 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 53

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)	rs80357147	0.00021
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)	rs56039126	0.00007
NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu)	rs80356928	0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)	rs80357102	0.00005
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)	rs80357273	0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)	rs80357108	0.00003
NM_007294.4(BRCA1):c.594-2A>C	rs80358033	0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly)	rs55680408	0.00003
NM_007294.4(BRCA1):c.81-6T>C	rs80358179	0.00003
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)	rs80357480	0.00002
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)	rs80356964	0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)	rs80357084	0.00001
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr)	rs80357159	0.00001
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)	rs397508934	0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)	rs80357209	0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)	rs80356911	0.00001
NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser)	rs786203689	0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile)	rs80357361	0.00001
NM_007294.4(BRCA1):c.2791G>T (p.Val931Leu)	rs763639161	0.00001
NM_007294.4(BRCA1):c.2930C>T (p.Pro977Leu)	rs141465583	0.00001
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr)	rs55848034	0.00001
NM_007294.4(BRCA1):c.4126A>G (p.Thr1376Ala)	rs576828558	0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr)	rs80357470	0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)	rs80356987	0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)	rs200432771	0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)	rs786203868	0.00001
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)	rs80356942	0.00001
NM_001407966.1(BRCA1):c.-218-9401_-218-9262dup	rs1567810007
NM_007294.4(BRCA1):c.1390A>G (p.Thr464Ala)	rs869320787
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly)	rs80356964
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr)	rs397507187
NM_007294.4(BRCA1):c.2296A>C (p.Ser766Arg)	rs398122655
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu)	rs80356945
NM_007294.4(BRCA1):c.2372T>C (p.Leu791Pro)
NM_007294.4(BRCA1):c.2397T>A (p.Asn799Lys)	rs80357203
NM_007294.4(BRCA1):c.242A>T (p.Gln81Leu)	rs886040862
NM_007294.4(BRCA1):c.2527A>G (p.Thr843Ala)	rs80357435
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)	rs80357200
NM_007294.4(BRCA1):c.2870A>C (p.Gln957Pro)	rs1567793946
NM_007294.4(BRCA1):c.3037G>C (p.Glu1013Gln)
NM_007294.4(BRCA1):c.381T>G (p.Ser127Arg)	rs945168715
NM_007294.4(BRCA1):c.4357+7A>G	rs431825407
NM_007294.4(BRCA1):c.4485-8C>A	rs397507234
NM_007294.4(BRCA1):c.4885dup (p.Glu1629fs)	rs886040254
NM_007294.4(BRCA1):c.4955T>A (p.Met1652Lys)	rs80356968
NM_007294.4(BRCA1):c.4955_4956delinsAA (p.Met1652Lys)	rs1597830347
NM_007294.4(BRCA1):c.4987-4del	rs1567772535
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)	rs397509257
NM_007294.4(BRCA1):c.5334T>A (p.Asp1778Glu)	rs754152768
NM_007294.4(BRCA1):c.5406+9T>C	rs80358040
NM_007294.4(BRCA1):c.547+14del	rs273902771
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr)	rs431825419
NM_007294.4(BRCA1):c.954T>A (p.His318Gln)	rs1135401826

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