All variants in the BRCA1 gene

All records describing functional studies of specific variants. BRCA1 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_007294.3 transcript reference sequence.

2255 entries on 23 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/- _1 c.-2617_-2616del r.(?) p.(=) - - benign g.41279884_41279885del g.43127867_43127868del - - BRCA1_004602 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.37 (African), derived from 1000 genomes (2012-04-30). Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-2614T>C r.(?) p.(=) - - benign g.41279882A>G g.43127865A>G - - BRCA1_004601 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.22 (African), 0.36 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-2569G>T r.(?) p.(=) - - benign g.41279837C>A g.43127820C>A - - BRCA1_004600 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.13 (African), 0.35 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-2502T>C r.(?) p.(=) - - benign g.41279770A>G g.43127753A>G - - BRCA1_004599 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.21 (African), 0.37 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-2293C>G r.(?) p.(=) - - benign g.41279561G>C g.43127544G>C - - BRCA1_004598 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.87 (African), 0.37 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-2266G>A r.(?) p.(=) - - benign g.41279534C>T g.43127517C>T - - BRCA1_004597 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.05 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-2261T>C r.(?) p.(=) - - benign g.41279529A>G g.43127512A>G - - BRCA1_004596 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-2030T>C r.(?) p.(=) - - benign g.41279298A>G g.43127281A>G - - BRCA1_004595 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.22 (African), 0.36 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-1959C>T r.(?) p.(=) - - benign g.41279227G>A g.43127210G>A - - BRCA1_004594 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-1648T>C r.(?) p.(=) - - benign g.41278916A>G g.43126899A>G - - BRCA1_004593 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.71 (African), 0.36 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-1619G>A r.(?) p.(=) - - benign g.41278887C>T g.43126870C>T - - BRCA1_004592 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.04 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-1465G>A r.(?) p.(=) - - benign g.41278733C>T g.43126716C>T - - BRCA1_004591 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.08 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-1457G>C r.(?) p.(=) - - benign g.41278725C>G g.43126708C>G - - BRCA1_004590 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.5 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-1109C>T r.(?) p.(=) - - benign g.41278377G>A g.43126360G>A - - BRCA1_004589 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.22 (African), 0.36 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-848A>G r.(?) p.(=) - - benign g.41278116T>C g.43126099T>C - - BRCA1_004588 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.72 (African), 0.37 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-728A>G r.(?) p.(=) - - benign g.41277996T>C g.43125979T>C - - BRCA1_004587 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.06 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-273G>A r.(?) p.(=) - - benign g.41277541C>T g.43125524C>T - - BRCA1_004586 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1 c.-192T>C r.(?) p.(=) - - benign g.41277460A>G g.43125443A>G - - BRCA1_004585 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02033 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-20+101C>G r.(?) p.(=) - - benign g.41277187G>C g.43125170G>C - - BRCA1_002737 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.1362 (African), 0.3694 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-20+185T>G r.(?) p.(=) - - benign g.41277103A>C g.43125086A>C - - BRCA1_004584 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02033 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-20+336C>T r.(?) p.(=) - - benign g.41276952G>A g.43124935G>A - - BRCA1_004583 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0874 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-20+519_-20+523del r.(?) p.(=) - - benign g.41276790_41276794del g.43124773_43124777del - - BRCA1_004582 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0166 (African), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-20+530G>A r.(?) p.(=) - - benign g.41276758C>T g.43124741C>T - - BRCA1_004581 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02033 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-19-361C>T r.(?) p.(=) - - benign g.41276493G>A g.43124476G>A - - BRCA1_004580 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0122 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-19-216A>G r.(?) p.(=) - - benign g.41276348T>C g.43124331T>C - - BRCA1_004579 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-19-115T>C r.(?) p.(=) - - benign g.41276247A>G g.43124230A>G - - BRCA1_002795 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-19-85_-19-81del r.(?) p.(=) - - benign g.41276217_41276221del g.43124200_43124204del - - BRCA1_001399 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0144 (African), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.19_47del r.(?) p.(Arg7Cysfs*24) - - pathogenic (dominant) g.41276067_41276095del g.43124050_43124078del - - BRCA1_000815 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.22_50del r.(?) p.(Val8Tyrfs*23) - - pathogenic (dominant) g.41276066_41276094del g.43124049_43124077del - - BRCA1_004572 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.32_33insC r.(?) p.(Gln12Thrfs*5) - - pathogenic (dominant) g.41276081_41276082insG g.43124064_43124065insG - - BRCA1_004578 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.34C>T r.(?) p.(Gln12*) - - pathogenic (dominant) g.41276080G>A g.43124063G>A - - BRCA1_001515 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.36_39del r.(?) p.(Asn13Serfs*9) - - pathogenic (dominant) g.41276075_41276078del g.43124058_43124061del - - BRCA1_004577 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.37_40del r.(?) p.(Asn13Serfs*9) - - pathogenic (dominant) g.41276074_41276077del g.43124057_43124060del - - BRCA1_004576 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.40del r.(?) p.(Val14Serfs*9) - - pathogenic (dominant) g.41276074del g.43124057del - - BRCA1_004575 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.40_41del r.(?) p.(Val14Hisfs*2) - - pathogenic (dominant) g.41276074_41276075del g.43124057_43124058del - - BRCA1_004574 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.45del r.(?) p.(Asn16Metfs*7) - - pathogenic (dominant) g.41276070del g.43124053del - - BRCA1_004573 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.51del r.(?) p.(Met18Cysfs*5) - - pathogenic (dominant) g.41276063del g.43124046del - - BRCA1_000813 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.55C>T r.(?) p.(Gln19*) - - pathogenic (dominant) g.41276059G>A g.43124042G>A - - BRCA1_004571 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.61del r.(?) p.(Ile21Serfs*2) - - pathogenic (dominant) g.41276056del g.43124039del - - BRCA1_004570 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.62_65del r.(?) p.(Ile21Lysfs*9) - - pathogenic (dominant) g.41276049_41276052del g.43124032_43124035del - - BRCA1_002581 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.64_65dup r.(?) p.(Leu22Phefs*2) - - pathogenic (dominant) g.41276049_41276050dup g.43124032_43124033dup 64_65dupTT - BRCA1_002937 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.65del r.(?) p.(Leu22*) - - pathogenic (dominant) g.41276050del g.43124033del - - BRCA1_004569 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.65T>C r.(?) p.(Leu22Ser) - - pathogenic (dominant) g.41276049A>G g.43124032A>G - - BRCA1_000013 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 5 based on posterior probability = 0.99 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.66dup r.(?) p.(Glu23Argfs*18) - - pathogenic (dominant) g.41276048dup g.43124031dup - - BRCA1_001098 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.68del r.(?) p.(Glu23Glyfs*8) - - pathogenic (dominant) g.41276046del g.43124029del - - BRCA1_004568 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.68dup r.(?) p.(Cys24Valfs*17) - - pathogenic (dominant) g.41276046dup g.43124029dup - - BRCA1_000812 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.68_69del r.(?) p.(Glu23Valfs*17) - - pathogenic (dominant) g.41276047_41276048del g.43124030_43124031del - - BRCA1_001114 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.68_69dup r.(?) p.(Cys24Serfs*8) - - pathogenic (dominant) g.41276047_41276048dup g.43124030_43124031dup - - BRCA1_004567 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.69dup r.(?) p.(Cys24Valfs*17) - - pathogenic (dominant) g.41276045dup g.43124028dup - - BRCA1_004566 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.70_71insA r.(?) p.(Cys24*) - - pathogenic (dominant) g.41276043_41276044insT g.43124026_43124027insT - - BRCA1_004565 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.70_71insTGTC r.(?) p.(Cys24Leufs*18) - - pathogenic (dominant) g.41276043_41276044insGACA g.43124026_43124027insGACA - - BRCA1_004564 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.70_73dup r.(?) p.(Pro25Leufs*17) - - pathogenic (dominant) g.41276041_41276044dup g.43124024_43124027dup - - BRCA1_000811 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.70_80del r.(?) p.(Cys24Serfs*13) - - pathogenic (dominant) g.41276035_41276045del g.43124018_43124028del - - BRCA1_002936 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.71_72del r.(?) p.(Cys24Serfs*16) - - pathogenic (dominant) g.41276044_41276045del g.43124027_43124028del - - BRCA1_004563 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.74_75del r.(?) p.(Pro25Hisfs*15) - - pathogenic (dominant) g.41276040_41276041del g.43124023_43124024del - - BRCA1_004562 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+202C>T r.(?) p.(=) - - benign g.41275832G>A g.43123815G>A - - BRCA1_004561 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01423 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+379C>T r.(?) p.(=) - - benign g.41275655G>A g.43123638G>A - - BRCA1_004560 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02033 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+389T>C r.(?) p.(=) - - benign g.41275645A>G g.43123628A>G - - BRCA1_004559 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3269 (Asian), 0.2114 (African), 0.3575 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+883C>G r.(?) p.(=) - - benign g.41275151G>C g.43123134G>C - - BRCA1_004558 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.126 (African), 0.3575 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+952dup r.(?) p.(=) - - benign g.41275090dup g.43123073dup 80+952dupT - BRCA1_004557 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3 (Asian), 0.12 (African), 0.32 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+1128C>T r.(?) p.(=) - - benign g.41274906G>A g.43122889G>A - - BRCA1_004556 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3129 (Asian), 0.1768 (African), 0.3522 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+1128del r.(?) p.(=) - - benign g.41274906del g.43122889del - - BRCA1_004555 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.31 (Asian), 0.8 (African), 0.34 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+1245G>A r.(?) p.(=) - - benign g.41274789C>T g.43122772C>T - - BRCA1_004554 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.06098 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+1256C>T r.(?) p.(=) - - benign g.41274778G>A g.43122761G>A - - BRCA1_004553 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+1470A>T r.(?) p.(=) - - benign g.41274564T>A g.43122547T>A - - BRCA1_004552 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0286 (South Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+2497T>G r.(?) p.(=) - - benign g.41273537A>C g.43121520A>C - - BRCA1_004551 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3287 (Asian), 0.2175 (African), 0.3562 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+2612G>A r.(?) p.(=) - - benign g.41273422C>T g.43121405C>T - - BRCA1_004550 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01187 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+2655C>G r.(?) p.(=) - - benign g.41273379G>C g.43121362G>C - - BRCA1_004549 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.128 (African), 0.3575 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+2686A>G r.(?) p.(=) - - benign g.41273348T>C g.43121331T>C - - BRCA1_004548 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.1484 (African), 0.3694 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+2786G>A r.(?) p.(=) - - benign g.41273248C>T g.43121231C>T - - BRCA1_004547 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1484 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+2939C>T r.(?) p.(=) - - benign g.41273095G>A g.43121078G>A - - BRCA1_004546 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3339 (Asian), 0.2114 (African), 0.3509 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+3011C>T r.(?) p.(=) - - benign g.41273023G>A g.43121006G>A - - BRCA1_004545 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.08537 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+3038C>T r.(?) p.(=) - - benign g.41272996G>A g.43120979G>A - - BRCA1_004544 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01319 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+3207A>G r.(?) p.(=) - - benign g.41272827T>C g.43120810T>C - - BRCA1_004543 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01423 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+3724C>G r.(?) p.(=) - - benign g.41272310G>C g.43120293G>C - - BRCA1_004542 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02033 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.80+4068T>C r.(?) p.(=) - - benign g.41271966A>G g.43119949A>G - - BRCA1_004541 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0113 (African), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-3426G>A r.(?) p.(=) - - benign g.41271222C>T g.43119205C>T - - BRCA1_004540 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01049 (Asian), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-3255C>T r.(?) p.(=) - - benign g.41271051G>A g.43119034G>A - - BRCA1_004539 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.05691 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-2983dup r.(?) p.(=) - - benign g.41270793dup g.43118776dup - - BRCA1_004538 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.2515 (European), 0.1082 (African), 0.2882 (Admixed American/Latino), 0.2569 (East Asian), 0.3364 (South Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-2870G>T r.(?) p.(=) - - benign g.41270666C>A g.43118649C>A - - BRCA1_004537 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.128 (African), 0.3575 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-2667C>T r.(?) p.(=) - - benign g.41270463G>A g.43118446G>A - - BRCA1_004536 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-2646C>T r.(?) p.(=) - - benign g.41270442G>A g.43118425G>A - - BRCA1_004535 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.06504 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-2622C>G r.(?) p.(=) - - benign g.41270418G>C g.43118401G>C - - BRCA1_004534 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1931 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-2559A>G r.(?) p.(=) - - benign g.41270355T>C g.43118338T>C - - BRCA1_004533 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03455 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-2481G>A r.(?) p.(=) - - benign g.41270277C>T g.43118260C>T - - BRCA1_004532 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.128 (African), 0.3575 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-2439C>T r.(?) p.(=) - - benign g.41270235G>A g.43118218G>A - - BRCA1_004531 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.08943 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-2433A>C r.(?) p.(=) - - benign g.41270229T>G g.43118212T>G - - BRCA1_004530 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-2286A>G r.(?) p.(=) - - benign g.41270082T>C g.43118065T>C - - BRCA1_004529 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01016 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-1947A>G r.(?) p.(=) - - benign g.41269743T>C g.43117726T>C - - BRCA1_004528 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0106 (African), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-1519G>A r.(?) p.(=) - - benign g.41269315C>T g.43117298C>T - - BRCA1_004527 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0122 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-1384G>A r.(?) p.(=) - - benign g.41269180C>T g.43117163C>T - - BRCA1_004526 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02111 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-1202T>A r.(?) p.(=) - - benign g.41268998A>T g.43116981A>T - - BRCA1_004525 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01423 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-950C>T r.(?) p.(=) - - benign g.41268746G>A g.43116729G>A - - BRCA1_004524 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.08333 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-802G>A r.(?) p.(=) - - benign g.41268598C>T g.43116581C>T - - BRCA1_004523 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.05285 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-672C>G r.(?) p.(=) - - benign g.41268468G>C g.43116451G>C - - BRCA1_004522 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03455 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-508A>C r.(?) p.(=) - - benign g.41268304T>G g.43116287T>G - - BRCA1_004521 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0307 (South Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-414_81-413dup r.(?) p.(=) - - benign g.41268215_41268216dup g.43116198_43116199dup - - BRCA1_004520 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0268 (European), 0.0115 (Admixed American/Latino), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-413dup r.(?) p.(=) - - benign g.41268216dup g.43116199dup - - BRCA1_004519 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.331 (European), 0.2179 (African), 0.3617 (Admixed American/Latino), 0.371 (East Asian), 0.4949 (South Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-410T>G r.(?) p.(=) - - benign g.41268206A>C g.43116189A>C - - BRCA1_004518 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.81-189A>T r.(?) p.(=) - - benign g.41267985T>A g.43115968T>A - - BRCA1_004517 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02033 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
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