Name: rs16942
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs16942

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:43091983 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: T>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.329659 (124304/377068, ALFA)
C=0.301345 (79763/264690, TOPMED)
C=0.352682 (88507/250954, GnomAD_exome) (+ 27 more)
C=0.307841 (43091/139978, GnomAD)
C=0.349005 (42150/120772, ExAC)
C=0.28806 (22671/78702, PAGE_STUDY)
C=0.32437 (9166/28258, 14KJPN)
C=0.32768 (5492/16760, 8.3KJPN)
C=0.29525 (3840/13006, GO-ESP)
C=0.3468 (2221/6404, 1000G_30x)
C=0.3526 (1766/5008, 1000G)
C=0.3558 (1594/4480, Estonian)
C=0.3337 (1286/3854, ALSPAC)
C=0.3374 (1251/3708, TWINSUK)
C=0.3065 (898/2930, KOREAN)
C=0.3772 (786/2084, HGDP_Stanford)
C=0.3026 (572/1890, HapMap)
C=0.3204 (587/1832, Korea1K)
C=0.3810 (432/1134, Daghestan)
C=0.322 (321/998, GoNL)
C=0.325 (255/784, PRJEB37584)
C=0.425 (260/612, Vietnamese)
C=0.258 (155/600, NorthernSweden)
C=0.346 (185/534, MGP)
T=0.384 (126/328, SGDP_PRJ)
C=0.382 (116/304, FINRISK)
C=0.347 (75/216, Qatari)
C=0.30 (26/88, Ancient Sardinia)
C=0.33 (13/40, GENOME_DK)
T=0.41 (13/32, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: BRCA1 : Missense Variant
Publications: 30 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	393186	T=0.671700	A=0.000000, C=0.328300
European	Sub	331956	T=0.671228	A=0.000000, C=0.328772
African	Sub	16328	T=0.76801	A=0.00000, C=0.23199
African Others	Sub	582	T=0.802	A=0.000, C=0.198
African American	Sub	15746	T=0.76673	A=0.00000, C=0.23327
Asian	Sub	6980	T=0.6471	A=0.0000, C=0.3529
East Asian	Sub	5012	T=0.6558	A=0.0000, C=0.3442
Other Asian	Sub	1968	T=0.6250	A=0.0000, C=0.3750
Latin American 1	Sub	1488	T=0.6821	A=0.0000, C=0.3179
Latin American 2	Sub	7230	T=0.6574	A=0.0000, C=0.3426
South Asian	Sub	5226	T=0.5069	A=0.0000, C=0.4931
Other	Sub	23978	T=0.65940	A=0.00000, C=0.34060

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	377068	T=0.670341	A=0.000000, C=0.329659
Allele Frequency Aggregator	European	Sub	322088	T=0.671087	A=0.000000, C=0.328913
Allele Frequency Aggregator	Other	Sub	22548	T=0.65775	A=0.00000, C=0.34225
Allele Frequency Aggregator	African	Sub	11508	T=0.76903	A=0.00000, C=0.23097
Allele Frequency Aggregator	Latin American 2	Sub	7230	T=0.6574	A=0.0000, C=0.3426
Allele Frequency Aggregator	Asian	Sub	6980	T=0.6471	A=0.0000, C=0.3529
Allele Frequency Aggregator	South Asian	Sub	5226	T=0.5069	A=0.0000, C=0.4931
Allele Frequency Aggregator	Latin American 1	Sub	1488	T=0.6821	A=0.0000, C=0.3179
TopMed	Global	Study-wide	264690	T=0.698655	C=0.301345
gnomAD - Exomes	Global	Study-wide	250954	T=0.647318	C=0.352682
gnomAD - Exomes	European	Sub	135032	T=0.663206	C=0.336794
gnomAD - Exomes	Asian	Sub	48956	T=0.54273	C=0.45727
gnomAD - Exomes	American	Sub	34524	T=0.68358	C=0.31642
gnomAD - Exomes	African	Sub	16242	T=0.76345	C=0.23655
gnomAD - Exomes	Ashkenazi Jewish	Sub	10072	T=0.62728	C=0.37272
gnomAD - Exomes	Other	Sub	6128	T=0.6536	C=0.3464
gnomAD - Genomes	Global	Study-wide	139978	T=0.692159	C=0.307841
gnomAD - Genomes	European	Sub	75824	T=0.66040	C=0.33960
gnomAD - Genomes	African	Sub	41954	T=0.76565	C=0.23435
gnomAD - Genomes	American	Sub	13612	T=0.67294	C=0.32706
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.6386	C=0.3614
gnomAD - Genomes	East Asian	Sub	3120	T=0.6269	C=0.3731
gnomAD - Genomes	Other	Sub	2150	T=0.6772	C=0.3228
ExAC	Global	Study-wide	120772	T=0.650995	C=0.349005
ExAC	Europe	Sub	72984	T=0.66789	C=0.33211
ExAC	Asian	Sub	25014	T=0.53994	C=0.46006
ExAC	American	Sub	11482	T=0.68586	C=0.31414
ExAC	African	Sub	10390	T=0.76420	C=0.23580
ExAC	Other	Sub	902	T=0.616	C=0.384
The PAGE Study	Global	Study-wide	78702	T=0.71194	C=0.28806
The PAGE Study	AfricanAmerican	Sub	32516	T=0.76470	C=0.23530
The PAGE Study	Mexican	Sub	10810	T=0.68631	C=0.31369
The PAGE Study	Asian	Sub	8318	T=0.6595	C=0.3405
The PAGE Study	PuertoRican	Sub	7918	T=0.6979	C=0.3021
The PAGE Study	NativeHawaiian	Sub	4534	T=0.6350	C=0.3650
The PAGE Study	Cuban	Sub	4230	T=0.6792	C=0.3208
The PAGE Study	Dominican	Sub	3828	T=0.7092	C=0.2908
The PAGE Study	CentralAmerican	Sub	2450	T=0.7159	C=0.2841
The PAGE Study	SouthAmerican	Sub	1982	T=0.6176	C=0.3824
The PAGE Study	NativeAmerican	Sub	1260	T=0.6873	C=0.3127
The PAGE Study	SouthAsian	Sub	856	T=0.495	C=0.505
14KJPN	JAPANESE	Study-wide	28258	T=0.67563	C=0.32437
8.3KJPN	JAPANESE	Study-wide	16760	T=0.67232	C=0.32768
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.70475	C=0.29525
GO Exome Sequencing Project	European American	Sub	8600	T=0.6756	C=0.3244
GO Exome Sequencing Project	African American	Sub	4406	T=0.7617	C=0.2383
1000Genomes_30x	Global	Study-wide	6404	T=0.6532	C=0.3468
1000Genomes_30x	African	Sub	1786	T=0.7839	C=0.2161
1000Genomes_30x	Europe	Sub	1266	T=0.6509	C=0.3491
1000Genomes_30x	South Asian	Sub	1202	T=0.5100	C=0.4900
1000Genomes_30x	East Asian	Sub	1170	T=0.6282	C=0.3718
1000Genomes_30x	American	Sub	980	T=0.623	C=0.377
1000Genomes	Global	Study-wide	5008	T=0.6474	C=0.3526
1000Genomes	African	Sub	1322	T=0.7821	C=0.2179
1000Genomes	East Asian	Sub	1008	T=0.6290	C=0.3710
1000Genomes	Europe	Sub	1006	T=0.6451	C=0.3549
1000Genomes	South Asian	Sub	978	T=0.502	C=0.498
1000Genomes	American	Sub	694	T=0.625	C=0.375
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6442	C=0.3558
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6663	C=0.3337
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6626	C=0.3374
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6935	A=0.0000, C=0.3065
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.6228	C=0.3772
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.643	C=0.357
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.565	C=0.435
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.657	C=0.343
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.678	C=0.322
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.723	C=0.277
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.505	C=0.495
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.43	C=0.57
HapMap	Global	Study-wide	1890	T=0.6974	C=0.3026
HapMap	American	Sub	768	T=0.620	C=0.380
HapMap	African	Sub	692	T=0.799	C=0.201
HapMap	Asian	Sub	254	T=0.705	C=0.295
HapMap	Europe	Sub	176	T=0.625	C=0.375
Korean Genome Project	KOREAN	Study-wide	1832	T=0.6796	C=0.3204
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	T=0.6190	C=0.3810
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.626	C=0.374
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.597	C=0.403
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.639	C=0.361
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.722	C=0.278
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	T=0.44	C=0.56
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.69	C=0.31
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.678	C=0.322
CNV burdens in cranial meningiomas	Global	Study-wide	784	T=0.675	C=0.325
CNV burdens in cranial meningiomas	CRM	Sub	784	T=0.675	C=0.325
A Vietnamese Genetic Variation Database	Global	Study-wide	612	T=0.575	C=0.425
Northern Sweden	ACPOP	Study-wide	600	T=0.742	C=0.258
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.654	C=0.346
SGDP_PRJ	Global	Study-wide	328	T=0.384	C=0.616
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.618	C=0.382
Qatari	Global	Study-wide	216	T=0.653	C=0.347
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	88	T=0.70	C=0.30
The Danish reference pan genome	Danish	Study-wide	40	T=0.68	C=0.33
Siberian	Global	Study-wide	32	T=0.41	C=0.59

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 17	NC_000017.11:g.43091983T>A
GRCh38.p14 chr 17	NC_000017.11:g.43091983T>C
GRCh37.p13 chr 17	NC_000017.10:g.41244000T>A
GRCh37.p13 chr 17	NC_000017.10:g.41244000T>C
BRCA1 RefSeqGene (LRG_292)	NG_005905.2:g.126001A>T
BRCA1 RefSeqGene (LRG_292)	NG_005905.2:g.126001A>G

Gene: BRCA1, BRCA1 DNA repair associated (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BRCA1 transcript variant 4	NM_007298.3:c.788-951A>T	N/A	Intron Variant
BRCA1 transcript variant 5	NM_007299.4:c.788-951A>T	N/A	Intron Variant
BRCA1 transcript variant 3	NM_007297.4:c.3407A>T	K [AAA] > I [ATA]	Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 3	NP_009228.2:p.Lys1136Ile	K (Lys) > I (Ile)	Missense Variant
BRCA1 transcript variant 3	NM_007297.4:c.3407A>G	K [AAA] > R [AGA]	Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 3	NP_009228.2:p.Lys1136Arg	K (Lys) > R (Arg)	Missense Variant
BRCA1 transcript variant 2	NM_007300.4:c.3548A>T	K [AAA] > I [ATA]	Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 2	NP_009231.2:p.Lys1183Ile	K (Lys) > I (Ile)	Missense Variant
BRCA1 transcript variant 2	NM_007300.4:c.3548A>G	K [AAA] > R [AGA]	Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 2	NP_009231.2:p.Lys1183Arg	K (Lys) > R (Arg)	Missense Variant
BRCA1 transcript variant 1	NM_007294.4:c.3548A>T	K [AAA] > I [ATA]	Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 1	NP_009225.1:p.Lys1183Ile	K (Lys) > I (Ile)	Missense Variant
BRCA1 transcript variant 1	NM_007294.4:c.3548A>G	K [AAA] > R [AGA]	Coding Sequence Variant
breast cancer type 1 susceptibility protein isoform 1	NP_009225.1:p.Lys1183Arg	K (Lys) > R (Arg)	Missense Variant
BRCA1 transcript variant 6	NR_027676.2:n.3725A>T	N/A	Non Coding Transcript Variant
BRCA1 transcript variant 6	NR_027676.2:n.3725A>G	N/A	Non Coding Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 531263 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000637591.3	Hereditary breast ovarian cancer syndrome	Uncertain-Significance
RCV000776822.4	Hereditary cancer-predisposing syndrome	Uncertain-Significance

Allele: C (allele ID: 50257 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000034742.11	not provided	Benign
RCV000048229.13	Hereditary breast ovarian cancer syndrome	Benign
RCV000112115.12	Breast-ovarian cancer, familial, susceptibility to, 1	Benign
RCV000120278.20	not specified	Benign
RCV000128991.5	Hereditary cancer-predisposing syndrome	Benign
RCV000460753.5	Familial cancer of breast	Benign
RCV000770891.2	Breast carcinoma	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	T=	A	C
GRCh38.p14 chr 17	NC_000017.11:g.43091983=	NC_000017.11:g.43091983T>A	NC_000017.11:g.43091983T>C
GRCh37.p13 chr 17	NC_000017.10:g.41244000=	NC_000017.10:g.41244000T>A	NC_000017.10:g.41244000T>C
BRCA1 RefSeqGene (LRG_292)	NG_005905.2:g.126001=	NG_005905.2:g.126001A>T	NG_005905.2:g.126001A>G
BRCA1 transcript variant 2	NM_007300.4:c.3548=	NM_007300.4:c.3548A>T	NM_007300.4:c.3548A>G
BRCA1 transcript variant 2	NM_007300.3:c.3548=	NM_007300.3:c.3548A>T	NM_007300.3:c.3548A>G
BRCA1 transcript variant 1	NM_007294.4:c.3548=	NM_007294.4:c.3548A>T	NM_007294.4:c.3548A>G
BRCA1 transcript variant 1	NM_007294.3:c.3548=	NM_007294.3:c.3548A>T	NM_007294.3:c.3548A>G
BRCA1 transcript variant 3	NM_007297.4:c.3407=	NM_007297.4:c.3407A>T	NM_007297.4:c.3407A>G
BRCA1 transcript variant 3	NM_007297.3:c.3407=	NM_007297.3:c.3407A>T	NM_007297.3:c.3407A>G
BRCA1 transcript variant 14	NM_001407593.1:c.3548=	NM_001407593.1:c.3548A>T	NM_001407593.1:c.3548A>G
BRCA1 transcript variant 33	NM_001407621.1:c.3548=	NM_001407621.1:c.3548A>T	NM_001407621.1:c.3548A>G
BRCA1 transcript variant 22	NM_001407610.1:c.3545=	NM_001407610.1:c.3545A>T	NM_001407610.1:c.3545A>G
BRCA1 transcript variant 46	NM_001407634.1:c.3545=	NM_001407634.1:c.3545A>T	NM_001407634.1:c.3545A>G
BRCA1 transcript variant 105	NM_001407697.1:c.3407=	NM_001407697.1:c.3407A>T	NM_001407697.1:c.3407A>G
BRCA1 transcript variant 124	NM_001407741.1:c.3404=	NM_001407741.1:c.3404A>T	NM_001407741.1:c.3404A>G
BRCA1 transcript variant 107	NM_001407724.1:c.3407=	NM_001407724.1:c.3407A>T	NM_001407724.1:c.3407A>G
BRCA1 transcript variant 136	NM_001407838.1:c.3404=	NM_001407838.1:c.3404A>T	NM_001407838.1:c.3404A>G
BRCA1 transcript variant 9	NM_001407583.1:c.3548=	NM_001407583.1:c.3548A>T	NM_001407583.1:c.3548A>G
BRCA1 transcript variant 13	NM_001407591.1:c.3545=	NM_001407591.1:c.3545A>T	NM_001407591.1:c.3545A>G
BRCA1 transcript variant 15	NM_001407594.1:c.3548=	NM_001407594.1:c.3548A>T	NM_001407594.1:c.3548A>G
BRCA1 transcript variant 37	NM_001407625.1:c.3548=	NM_001407625.1:c.3548A>T	NM_001407625.1:c.3548A>G
BRCA1 transcript variant 31	NM_001407619.1:c.3548=	NM_001407619.1:c.3548A>T	NM_001407619.1:c.3548A>G
BRCA1 transcript variant 27	NM_001407615.1:c.3545=	NM_001407615.1:c.3545A>T	NM_001407615.1:c.3545A>G
BRCA1 transcript variant 54	NM_001407642.1:c.3548=	NM_001407642.1:c.3548A>T	NM_001407642.1:c.3548A>G
BRCA1 transcript variant 45	NM_001407633.1:c.3545=	NM_001407633.1:c.3545A>T	NM_001407633.1:c.3545A>G
BRCA1 transcript variant 42	NM_001407630.1:c.3545=	NM_001407630.1:c.3545A>T	NM_001407630.1:c.3545A>G
BRCA1 transcript variant 21	NM_001407605.1:c.3548=	NM_001407605.1:c.3548A>T	NM_001407605.1:c.3548A>G
BRCA1 transcript variant 35	NM_001407623.1:c.3548=	NM_001407623.1:c.3548A>T	NM_001407623.1:c.3548A>G
BRCA1 transcript variant 162	NM_001407882.1:c.3338=	NM_001407882.1:c.3338A>T	NM_001407882.1:c.3338A>G
BRCA1 transcript variant 179	NM_001407908.1:c.3338=	NM_001407908.1:c.3338A>T	NM_001407908.1:c.3338A>G
BRCA1 transcript variant 171	NM_001407897.1:c.3335=	NM_001407897.1:c.3335A>T	NM_001407897.1:c.3335A>G
BRCA1 transcript variant 64	NM_001407655.1:c.3470=	NM_001407655.1:c.3470A>T	NM_001407655.1:c.3470A>G
BRCA1 transcript variant 175	NM_001407902.1:c.3338=	NM_001407902.1:c.3338A>T	NM_001407902.1:c.3338A>G
BRCA1 transcript variant 78	NM_001407669.1:c.3425=	NM_001407669.1:c.3425A>T	NM_001407669.1:c.3425A>G
BRCA1 transcript variant 86	NM_001407677.1:c.3425=	NM_001407677.1:c.3425A>T	NM_001407677.1:c.3425A>G
BRCA1 transcript variant 83	NM_001407674.1:c.3425=	NM_001407674.1:c.3425A>T	NM_001407674.1:c.3425A>G
BRCA1 transcript variant 82	NM_001407673.1:c.3422=	NM_001407673.1:c.3422A>T	NM_001407673.1:c.3422A>G
BRCA1 transcript variant 96	NM_001407687.1:c.3422=	NM_001407687.1:c.3422A>T	NM_001407687.1:c.3422A>G
BRCA1 transcript variant 93	NM_001407684.1:c.3548=	NM_001407684.1:c.3548A>T	NM_001407684.1:c.3548A>G
BRCA1 transcript variant 92	NM_001407683.1:c.3425=	NM_001407683.1:c.3425A>T	NM_001407683.1:c.3425A>G
BRCA1 transcript variant 99	NM_001407690.1:c.3422=	NM_001407690.1:c.3422A>T	NM_001407690.1:c.3422A>G
BRCA1 transcript variant 214	NM_001407947.1:c.3215=	NM_001407947.1:c.3215A>T	NM_001407947.1:c.3215A>G
BRCA1 transcript variant 223	NM_001407956.1:c.3212=	NM_001407956.1:c.3212A>T	NM_001407956.1:c.3212A>G
BRCA1 transcript variant 204	NM_001407937.1:c.3425=	NM_001407937.1:c.3425A>T	NM_001407937.1:c.3425A>G
BRCA1 transcript variant 206	NM_001407939.1:c.3425=	NM_001407939.1:c.3425A>T	NM_001407939.1:c.3425A>G
BRCA1 transcript variant 208	NM_001407941.1:c.3422=	NM_001407941.1:c.3422A>T	NM_001407941.1:c.3422A>G
BRCA1 transcript variant 110	NM_001407727.1:c.3407=	NM_001407727.1:c.3407A>T	NM_001407727.1:c.3407A>G
BRCA1 transcript variant 186	NM_001407919.1:c.3425=	NM_001407919.1:c.3425A>T	NM_001407919.1:c.3425A>G
BRCA1 transcript variant 104	NM_001407696.1:c.3407=	NM_001407696.1:c.3407A>T	NM_001407696.1:c.3407A>G
BRCA1 transcript variant 184	NM_001407917.1:c.3335=	NM_001407917.1:c.3335A>T	NM_001407917.1:c.3335A>G
BRCA1 transcript variant 16	NM_001407596.1:c.3548=	NM_001407596.1:c.3548A>T	NM_001407596.1:c.3548A>G
BRCA1 transcript variant 8	NM_001407582.1:c.3548=	NM_001407582.1:c.3548A>T	NM_001407582.1:c.3548A>G
BRCA1 transcript variant 143	NM_001407846.1:c.3404=	NM_001407846.1:c.3404A>T	NM_001407846.1:c.3404A>G
BRCA1 transcript variant 108	NM_001407725.1:c.3407=	NM_001407725.1:c.3407A>T	NM_001407725.1:c.3407A>G
BRCA1 transcript variant 123	NM_001407740.1:c.3404=	NM_001407740.1:c.3404A>T	NM_001407740.1:c.3404A>G
BRCA1 transcript variant 122	NM_001407739.1:c.3407=	NM_001407739.1:c.3407A>T	NM_001407739.1:c.3407A>G
BRCA1 transcript variant 102	NM_001407694.1:c.3407=	NM_001407694.1:c.3407A>T	NM_001407694.1:c.3407A>G
BRCA1 transcript variant 103	NM_001407695.1:c.3407=	NM_001407695.1:c.3407A>T	NM_001407695.1:c.3407A>G
BRCA1 transcript variant 144	NM_001407847.1:c.3404=	NM_001407847.1:c.3404A>T	NM_001407847.1:c.3404A>G
BRCA1 transcript variant 116	NM_001407733.1:c.3407=	NM_001407733.1:c.3407A>T	NM_001407733.1:c.3407A>G
BRCA1 transcript variant 113	NM_001407730.1:c.3407=	NM_001407730.1:c.3407A>T	NM_001407730.1:c.3407A>G
BRCA1 transcript variant 140	NM_001407843.1:c.3404=	NM_001407843.1:c.3404A>T	NM_001407843.1:c.3404A>G
BRCA1 transcript variant 135	NM_001407752.1:c.3407=	NM_001407752.1:c.3407A>T	NM_001407752.1:c.3407A>G
BRCA1 transcript variant 131	NM_001407748.1:c.3404=	NM_001407748.1:c.3404A>T	NM_001407748.1:c.3404A>G
BRCA1 transcript variant 117	NM_001407734.1:c.3407=	NM_001407734.1:c.3407A>T	NM_001407734.1:c.3407A>G
BRCA1 transcript variant 114	NM_001407731.1:c.3407=	NM_001407731.1:c.3407A>T	NM_001407731.1:c.3407A>G
BRCA1 transcript variant 147	NM_001407850.1:c.3407=	NM_001407850.1:c.3407A>T	NM_001407850.1:c.3407A>G
BRCA1 transcript variant 132	NM_001407749.1:c.3404=	NM_001407749.1:c.3404A>T	NM_001407749.1:c.3404A>G
BRCA1 transcript variant 139	NM_001407842.1:c.3404=	NM_001407842.1:c.3404A>T	NM_001407842.1:c.3404A>G
BRCA1 transcript variant 17	NM_001407597.1:c.3548=	NM_001407597.1:c.3548A>T	NM_001407597.1:c.3548A>G
BRCA1 transcript variant 167	NM_001407889.1:c.3338=	NM_001407889.1:c.3338A>T	NM_001407889.1:c.3338A>G
BRCA1 transcript variant 32	NM_001407620.1:c.3548=	NM_001407620.1:c.3548A>T	NM_001407620.1:c.3548A>G
BRCA1 transcript variant 24	NM_001407612.1:c.3545=	NM_001407612.1:c.3545A>T	NM_001407612.1:c.3545A>G
BRCA1 transcript variant 51	NM_001407639.1:c.3548=	NM_001407639.1:c.3548A>T	NM_001407639.1:c.3548A>G
BRCA1 transcript variant 48	NM_001407636.1:c.3545=	NM_001407636.1:c.3545A>T	NM_001407636.1:c.3545A>G
BRCA1 transcript variant 41	NM_001407629.1:c.3545=	NM_001407629.1:c.3545A>T	NM_001407629.1:c.3545A>G
BRCA1 transcript variant 174	NM_001407900.1:c.3338=	NM_001407900.1:c.3338A>T	NM_001407900.1:c.3338A>G
BRCA1 transcript variant 138	NM_001407841.1:c.3404=	NM_001407841.1:c.3404A>T	NM_001407841.1:c.3404A>G
BRCA1 transcript variant 160	NM_001407879.1:c.3338=	NM_001407879.1:c.3338A>T	NM_001407879.1:c.3338A>G
BRCA1 transcript variant 7	NM_001407581.1:c.3548=	NM_001407581.1:c.3548A>T	NM_001407581.1:c.3548A>G
BRCA1 transcript variant 178	NM_001407907.1:c.3338=	NM_001407907.1:c.3338A>T	NM_001407907.1:c.3338A>G
BRCA1 transcript variant 6	NM_001407571.1:c.3335=	NM_001407571.1:c.3335A>T	NM_001407571.1:c.3335A>G
BRCA1 transcript variant 134	NM_001407751.1:c.3407=	NM_001407751.1:c.3407A>T	NM_001407751.1:c.3407A>G
BRCA1 transcript variant 12	NM_001407590.1:c.3545=	NM_001407590.1:c.3545A>T	NM_001407590.1:c.3545A>G
BRCA1 transcript variant 109	NM_001407726.1:c.3407=	NM_001407726.1:c.3407A>T	NM_001407726.1:c.3407A>G
BRCA1 transcript variant 11	NM_001407587.1:c.3545=	NM_001407587.1:c.3545A>T	NM_001407587.1:c.3545A>G
BRCA1 transcript variant 10	NM_001407585.1:c.3548=	NM_001407585.1:c.3548A>T	NM_001407585.1:c.3548A>G
BRCA1 transcript variant 209	NM_001407942.1:c.3407=	NM_001407942.1:c.3407A>T	NM_001407942.1:c.3407A>G
BRCA1 transcript variant 150	NM_001407853.1:c.3335=	NM_001407853.1:c.3335A>T	NM_001407853.1:c.3335A>G
BRCA1 transcript variant 211	NM_001407944.1:c.3407=	NM_001407944.1:c.3407A>T	NM_001407944.1:c.3407A>G
BRCA1 transcript variant 210	NM_001407943.1:c.3404=	NM_001407943.1:c.3404A>T	NM_001407943.1:c.3404A>G
BRCA1 transcript variant 187	NM_001407920.1:c.3284=	NM_001407920.1:c.3284A>T	NM_001407920.1:c.3284A>G
BRCA1 transcript variant 153	NM_001407859.1:c.3548=	NM_001407859.1:c.3548A>T	NM_001407859.1:c.3548A>G
BRCA1 transcript variant 129	NM_001407746.1:c.3404=	NM_001407746.1:c.3404A>T	NM_001407746.1:c.3404A>G
BRCA1 transcript variant 36	NM_001407624.1:c.3548=	NM_001407624.1:c.3548A>T	NM_001407624.1:c.3548A>G
BRCA1 transcript variant 28	NM_001407616.1:c.3548=	NM_001407616.1:c.3548A>T	NM_001407616.1:c.3548A>G
BRCA1 transcript variant 23	NM_001407611.1:c.3545=	NM_001407611.1:c.3545A>T	NM_001407611.1:c.3545A>G
BRCA1 transcript variant 190	NM_001407923.1:c.3284=	NM_001407923.1:c.3284A>T	NM_001407923.1:c.3284A>G
BRCA1 transcript variant 53	NM_001407641.1:c.3548=	NM_001407641.1:c.3548A>T	NM_001407641.1:c.3548A>G
BRCA1 transcript variant 49	NM_001407637.1:c.3545=	NM_001407637.1:c.3545A>T	NM_001407637.1:c.3545A>G
BRCA1 transcript variant 40	NM_001407628.1:c.3545=	NM_001407628.1:c.3545A>T	NM_001407628.1:c.3545A>G
BRCA1 transcript variant 18	NM_001407598.1:c.3548=	NM_001407598.1:c.3548A>T	NM_001407598.1:c.3548A>G
BRCA1 transcript variant 200	NM_001407933.1:c.3284=	NM_001407933.1:c.3284A>T	NM_001407933.1:c.3284A>G
BRCA1 transcript variant 194	NM_001407927.1:c.3284=	NM_001407927.1:c.3284A>T	NM_001407927.1:c.3284A>G
BRCA1 transcript variant 56	NM_001407645.1:c.3545=	NM_001407645.1:c.3545A>T	NM_001407645.1:c.3545A>G
BRCA1 transcript variant 38	NM_001407626.1:c.3548=	NM_001407626.1:c.3548A>T	NM_001407626.1:c.3548A>G
BRCA1 transcript variant 29	NM_001407617.1:c.3548=	NM_001407617.1:c.3548A>T	NM_001407617.1:c.3548A>G
BRCA1 transcript variant 26	NM_001407614.1:c.3545=	NM_001407614.1:c.3545A>T	NM_001407614.1:c.3545A>G
BRCA1 transcript variant 197	NM_001407930.1:c.3281=	NM_001407930.1:c.3281A>T	NM_001407930.1:c.3281A>G
BRCA1 transcript variant 188	NM_001407921.1:c.3284=	NM_001407921.1:c.3284A>T	NM_001407921.1:c.3284A>G
BRCA1 transcript variant 201	NM_001407934.1:c.3281=	NM_001407934.1:c.3281A>T	NM_001407934.1:c.3281A>G
BRCA1 transcript variant 57	NM_001407646.1:c.3539=	NM_001407646.1:c.3539A>T	NM_001407646.1:c.3539A>G
BRCA1 transcript variant 52	NM_001407640.1:c.3548=	NM_001407640.1:c.3548A>T	NM_001407640.1:c.3548A>G
BRCA1 transcript variant 47	NM_001407635.1:c.3545=	NM_001407635.1:c.3545A>T	NM_001407635.1:c.3545A>G
BRCA1 transcript variant 39	NM_001407627.1:c.3545=	NM_001407627.1:c.3545A>T	NM_001407627.1:c.3545A>G
BRCA1 transcript variant 19	NM_001407602.1:c.3548=	NM_001407602.1:c.3548A>T	NM_001407602.1:c.3548A>G
BRCA1 transcript variant 55	NM_001407644.1:c.3545=	NM_001407644.1:c.3545A>T	NM_001407644.1:c.3545A>G
BRCA1 transcript variant 34	NM_001407622.1:c.3548=	NM_001407622.1:c.3548A>T	NM_001407622.1:c.3548A>G
BRCA1 transcript variant 50	NM_001407638.1:c.3545=	NM_001407638.1:c.3545A>T	NM_001407638.1:c.3545A>G
BRCA1 transcript variant 43	NM_001407631.1:c.3545=	NM_001407631.1:c.3545A>T	NM_001407631.1:c.3545A>G
BRCA1 transcript variant 20	NM_001407603.1:c.3548=	NM_001407603.1:c.3548A>T	NM_001407603.1:c.3548A>G
BRCA1 transcript variant 58	NM_001407647.1:c.3539=	NM_001407647.1:c.3539A>T	NM_001407647.1:c.3539A>G
BRCA1 transcript variant 163	NM_001407884.1:c.3338=	NM_001407884.1:c.3338A>T	NM_001407884.1:c.3338A>G
BRCA1 transcript variant 30	NM_001407618.1:c.3548=	NM_001407618.1:c.3548A>T	NM_001407618.1:c.3548A>G
BRCA1 transcript variant 25	NM_001407613.1:c.3545=	NM_001407613.1:c.3545A>T	NM_001407613.1:c.3545A>G
BRCA1 transcript variant 181	NM_001407910.1:c.3338=	NM_001407910.1:c.3338A>T	NM_001407910.1:c.3338A>G
BRCA1 transcript variant 176	NM_001407904.1:c.3338=	NM_001407904.1:c.3338A>T	NM_001407904.1:c.3338A>G
BRCA1 transcript variant 169	NM_001407895.1:c.3335=	NM_001407895.1:c.3335A>T	NM_001407895.1:c.3335A>G
BRCA1 transcript variant 44	NM_001407632.1:c.3545=	NM_001407632.1:c.3545A>T	NM_001407632.1:c.3545A>G
BRCA1 transcript variant 183	NM_001407916.1:c.3335=	NM_001407916.1:c.3335A>T	NM_001407916.1:c.3335A>G
BRCA1 transcript variant 182	NM_001407915.1:c.3335=	NM_001407915.1:c.3335A>T	NM_001407915.1:c.3335A>G
BRCA1 transcript variant 166	NM_001407887.1:c.3338=	NM_001407887.1:c.3338A>T	NM_001407887.1:c.3338A>G
BRCA1 transcript variant 221	NM_001407954.1:c.3212=	NM_001407954.1:c.3212A>T	NM_001407954.1:c.3212A>G
BRCA1 transcript variant 180	NM_001407909.1:c.3338=	NM_001407909.1:c.3338A>T	NM_001407909.1:c.3338A>G
BRCA1 transcript variant 177	NM_001407906.1:c.3338=	NM_001407906.1:c.3338A>T	NM_001407906.1:c.3338A>G
BRCA1 transcript variant 168	NM_001407894.1:c.3335=	NM_001407894.1:c.3335A>T	NM_001407894.1:c.3335A>G
BRCA1 transcript variant 185	NM_001407918.1:c.3335=	NM_001407918.1:c.3335A>T	NM_001407918.1:c.3335A>G
BRCA1 transcript variant 75	NM_001407666.1:c.3425=	NM_001407666.1:c.3425A>T	NM_001407666.1:c.3425A>G
BRCA1 transcript variant 170	NM_001407896.1:c.3335=	NM_001407896.1:c.3335A>T	NM_001407896.1:c.3335A>G
BRCA1 transcript variant 87	NM_001407678.1:c.3425=	NM_001407678.1:c.3425A>T	NM_001407678.1:c.3425A>G
BRCA1 transcript variant 81	NM_001407672.1:c.3422=	NM_001407672.1:c.3422A>T	NM_001407672.1:c.3422A>G
BRCA1 transcript variant 173	NM_001407899.1:c.3335=	NM_001407899.1:c.3335A>T	NM_001407899.1:c.3335A>G
BRCA1 transcript variant 165	NM_001407886.1:c.3338=	NM_001407886.1:c.3338A>T	NM_001407886.1:c.3338A>G
BRCA1 transcript variant 106	NM_001407698.1:c.3407=	NM_001407698.1:c.3407A>T	NM_001407698.1:c.3407A>G
BRCA1 transcript variant 215	NM_001407948.1:c.3215=	NM_001407948.1:c.3215A>T	NM_001407948.1:c.3215A>G
BRCA1 transcript variant 133	NM_001407750.1:c.3407=	NM_001407750.1:c.3407A>T	NM_001407750.1:c.3407A>G
BRCA1 transcript variant 127	NM_001407744.1:c.3404=	NM_001407744.1:c.3404A>T	NM_001407744.1:c.3404A>G
BRCA1 transcript variant 115	NM_001407732.1:c.3407=	NM_001407732.1:c.3407A>T	NM_001407732.1:c.3407A>G
BRCA1 transcript variant 59	NM_001407648.1:c.3425=	NM_001407648.1:c.3425A>T	NM_001407648.1:c.3425A>G
BRCA1 transcript variant 217	NM_001407950.1:c.3215=	NM_001407950.1:c.3215A>T	NM_001407950.1:c.3215A>G
BRCA1 transcript variant 149	NM_001407852.1:c.3407=	NM_001407852.1:c.3407A>T	NM_001407852.1:c.3407A>G
BRCA1 transcript variant 146	NM_001407849.1:c.3404=	NM_001407849.1:c.3404A>T	NM_001407849.1:c.3404A>G
BRCA1 transcript variant 142	NM_001407845.1:c.3404=	NM_001407845.1:c.3404A>T	NM_001407845.1:c.3404A>G
BRCA1 transcript variant 125	NM_001407742.1:c.3404=	NM_001407742.1:c.3404A>T	NM_001407742.1:c.3404A>G
BRCA1 transcript variant 119	NM_001407736.1:c.3407=	NM_001407736.1:c.3407A>T	NM_001407736.1:c.3407A>G
BRCA1 transcript variant 60	NM_001407649.1:c.3422=	NM_001407649.1:c.3422A>T	NM_001407649.1:c.3422A>G
BRCA1 transcript variant 219	NM_001407952.1:c.3215=	NM_001407952.1:c.3215A>T	NM_001407952.1:c.3215A>G
BRCA1 transcript variant 121	NM_001407738.1:c.3407=	NM_001407738.1:c.3407A>T	NM_001407738.1:c.3407A>G
BRCA1 transcript variant 154	NM_001407860.1:c.3545=	NM_001407860.1:c.3545A>T	NM_001407860.1:c.3545A>G
BRCA1 transcript variant 152	NM_001407858.1:c.3548=	NM_001407858.1:c.3548A>T	NM_001407858.1:c.3548A>G
BRCA1 transcript variant 62	NM_001407653.1:c.3470=	NM_001407653.1:c.3470A>T	NM_001407653.1:c.3470A>G
BRCA1 transcript variant 151	NM_001407854.1:c.3548=	NM_001407854.1:c.3548A>T	NM_001407854.1:c.3548A>G
BRCA1 transcript variant 67	NM_001407658.1:c.3470=	NM_001407658.1:c.3470A>T	NM_001407658.1:c.3470A>G
BRCA1 transcript variant 161	NM_001407881.1:c.3338=	NM_001407881.1:c.3338A>T	NM_001407881.1:c.3338A>G
BRCA1 transcript variant 72	NM_001407663.1:c.3470=	NM_001407663.1:c.3470A>T	NM_001407663.1:c.3470A>G
BRCA1 transcript variant 70	NM_001407661.1:c.3467=	NM_001407661.1:c.3467A>T	NM_001407661.1:c.3467A>G
BRCA1 transcript variant 69	NM_001407660.1:c.3467=	NM_001407660.1:c.3467A>T	NM_001407660.1:c.3467A>G
BRCA1 transcript variant 63	NM_001407654.1:c.3470=	NM_001407654.1:c.3470A>T	NM_001407654.1:c.3470A>G
BRCA1 transcript variant 61	NM_001407652.1:c.3548=	NM_001407652.1:c.3548A>T	NM_001407652.1:c.3548A>G
BRCA1 transcript variant 172	NM_001407898.1:c.3335=	NM_001407898.1:c.3335A>T	NM_001407898.1:c.3335A>G
BRCA1 transcript variant 155	NM_001407861.1:c.3545=	NM_001407861.1:c.3545A>T	NM_001407861.1:c.3545A>G
BRCA1 transcript variant 66	NM_001407657.1:c.3470=	NM_001407657.1:c.3470A>T	NM_001407657.1:c.3470A>G
BRCA1 transcript variant 65	NM_001407656.1:c.3470=	NM_001407656.1:c.3470A>T	NM_001407656.1:c.3470A>G
BRCA1 transcript variant 231	NM_001407965.1:c.3044=	NM_001407965.1:c.3044A>T	NM_001407965.1:c.3044A>G
BRCA1 transcript variant 71	NM_001407662.1:c.3467=	NM_001407662.1:c.3467A>T	NM_001407662.1:c.3467A>G
BRCA1 transcript variant 68	NM_001407659.1:c.3467=	NM_001407659.1:c.3467A>T	NM_001407659.1:c.3467A>G
BRCA1 transcript variant 112	NM_001407729.1:c.3407=	NM_001407729.1:c.3407A>T	NM_001407729.1:c.3407A>G
BRCA1 transcript variant 126	NM_001407743.1:c.3404=	NM_001407743.1:c.3404A>T	NM_001407743.1:c.3404A>G
BRCA1 transcript variant 118	NM_001407735.1:c.3407=	NM_001407735.1:c.3407A>T	NM_001407735.1:c.3407A>G
BRCA1 transcript variant 148	NM_001407851.1:c.3407=	NM_001407851.1:c.3407A>T	NM_001407851.1:c.3407A>G
BRCA1 transcript variant 141	NM_001407844.1:c.3404=	NM_001407844.1:c.3404A>T	NM_001407844.1:c.3404A>G
BRCA1 transcript variant 111	NM_001407728.1:c.3407=	NM_001407728.1:c.3407A>T	NM_001407728.1:c.3407A>G
BRCA1 transcript variant 128	NM_001407745.1:c.3404=	NM_001407745.1:c.3404A>T	NM_001407745.1:c.3404A>G
BRCA1 transcript variant 120	NM_001407737.1:c.3407=	NM_001407737.1:c.3407A>T	NM_001407737.1:c.3407A>G
BRCA1 transcript variant 145	NM_001407848.1:c.3404=	NM_001407848.1:c.3404A>T	NM_001407848.1:c.3404A>G
BRCA1 transcript variant 137	NM_001407839.1:c.3404=	NM_001407839.1:c.3404A>T	NM_001407839.1:c.3404A>G
BRCA1 transcript variant 158	NM_001407874.1:c.3344=	NM_001407874.1:c.3344A>T	NM_001407874.1:c.3344A>G
BRCA1 transcript variant 73	NM_001407664.1:c.3425=	NM_001407664.1:c.3425A>T	NM_001407664.1:c.3425A>G
BRCA1 transcript variant 89	NM_001407680.1:c.3425=	NM_001407680.1:c.3425A>T	NM_001407680.1:c.3425A>G
BRCA1 transcript variant 84	NM_001407675.1:c.3425=	NM_001407675.1:c.3425A>T	NM_001407675.1:c.3425A>G
BRCA1 transcript variant 79	NM_001407670.1:c.3422=	NM_001407670.1:c.3422A>T	NM_001407670.1:c.3422A>G
BRCA1 transcript variant 164	NM_001407885.1:c.3338=	NM_001407885.1:c.3338A>T	NM_001407885.1:c.3338A>G
BRCA1 transcript variant 98	NM_001407689.1:c.3422=	NM_001407689.1:c.3422A>T	NM_001407689.1:c.3422A>G
BRCA1 transcript variant 90	NM_001407681.1:c.3425=	NM_001407681.1:c.3425A>T	NM_001407681.1:c.3425A>G
BRCA1 transcript variant 76	NM_001407667.1:c.3425=	NM_001407667.1:c.3425A>T	NM_001407667.1:c.3425A>G
BRCA1 transcript variant 88	NM_001407679.1:c.3425=	NM_001407679.1:c.3425A>T	NM_001407679.1:c.3425A>G
BRCA1 transcript variant 85	NM_001407676.1:c.3425=	NM_001407676.1:c.3425A>T	NM_001407676.1:c.3425A>G
BRCA1 transcript variant 80	NM_001407671.1:c.3422=	NM_001407671.1:c.3422A>T	NM_001407671.1:c.3422A>G
BRCA1 transcript variant 97	NM_001407688.1:c.3422=	NM_001407688.1:c.3422A>T	NM_001407688.1:c.3422A>G
BRCA1 transcript variant 94	NM_001407685.1:c.3422=	NM_001407685.1:c.3422A>T	NM_001407685.1:c.3422A>G
BRCA1 transcript variant 91	NM_001407682.1:c.3425=	NM_001407682.1:c.3425A>T	NM_001407682.1:c.3425A>G
BRCA1 transcript variant 77	NM_001407668.1:c.3425=	NM_001407668.1:c.3425A>T	NM_001407668.1:c.3425A>G
BRCA1 transcript variant 212	NM_001407945.1:c.3407=	NM_001407945.1:c.3407A>T	NM_001407945.1:c.3407A>G
BRCA1 transcript variant 100	NM_001407691.1:c.3422=	NM_001407691.1:c.3422A>T	NM_001407691.1:c.3422A>G
BRCA1 transcript variant 74	NM_001407665.1:c.3425=	NM_001407665.1:c.3425A>T	NM_001407665.1:c.3425A>G
BRCA1 transcript variant 213	NM_001407946.1:c.3215=	NM_001407946.1:c.3215A>T	NM_001407946.1:c.3215A>G
BRCA1 transcript variant 222	NM_001407955.1:c.3212=	NM_001407955.1:c.3212A>T	NM_001407955.1:c.3212A>G
BRCA1 transcript variant 218	NM_001407951.1:c.3215=	NM_001407951.1:c.3215A>T	NM_001407951.1:c.3215A>G
BRCA1 transcript variant 95	NM_001407686.1:c.3422=	NM_001407686.1:c.3422A>T	NM_001407686.1:c.3422A>G
BRCA1 transcript variant 225	NM_001407958.1:c.3212=	NM_001407958.1:c.3212A>T	NM_001407958.1:c.3212A>G
BRCA1 transcript variant 216	NM_001407949.1:c.3215=	NM_001407949.1:c.3215A>T	NM_001407949.1:c.3215A>G
BRCA1 transcript variant 101	NM_001407692.1:c.3407=	NM_001407692.1:c.3407A>T	NM_001407692.1:c.3407A>G
BRCA1 transcript variant 220	NM_001407953.1:c.3215=	NM_001407953.1:c.3215A>T	NM_001407953.1:c.3215A>G
BRCA1 transcript variant 224	NM_001407957.1:c.3215=	NM_001407957.1:c.3215A>T	NM_001407957.1:c.3215A>G
BRCA1 transcript variant 130	NM_001407747.1:c.3404=	NM_001407747.1:c.3404A>T	NM_001407747.1:c.3404A>G
BRCA1 transcript variant 191	NM_001407924.1:c.3284=	NM_001407924.1:c.3284A>T	NM_001407924.1:c.3284A>G
BRCA1 transcript variant 227	NM_001407960.1:c.3167=	NM_001407960.1:c.3167A>T	NM_001407960.1:c.3167A>G
BRCA1 transcript variant 196	NM_001407929.1:c.3284=	NM_001407929.1:c.3284A>T	NM_001407929.1:c.3284A>G
BRCA1 transcript variant 203	NM_001407936.1:c.3281=	NM_001407936.1:c.3281A>T	NM_001407936.1:c.3281A>G
BRCA1 transcript variant 192	NM_001407925.1:c.3284=	NM_001407925.1:c.3284A>T	NM_001407925.1:c.3284A>G
BRCA1 transcript variant 228	NM_001407962.1:c.3164=	NM_001407962.1:c.3164A>T	NM_001407962.1:c.3164A>G
BRCA1 transcript variant 199	NM_001407932.1:c.3281=	NM_001407932.1:c.3281A>T	NM_001407932.1:c.3281A>G
BRCA1 transcript variant 195	NM_001407928.1:c.3284=	NM_001407928.1:c.3284A>T	NM_001407928.1:c.3284A>G
BRCA1 transcript variant 156	NM_001407862.1:c.3347=	NM_001407862.1:c.3347A>T	NM_001407862.1:c.3347A>G
BRCA1 transcript variant 205	NM_001407938.1:c.3425=	NM_001407938.1:c.3425A>T	NM_001407938.1:c.3425A>G
BRCA1 transcript variant 207	NM_001407940.1:c.3422=	NM_001407940.1:c.3422A>T	NM_001407940.1:c.3422A>G
BRCA1 transcript variant 157	NM_001407863.1:c.3425=	NM_001407863.1:c.3425A>T	NM_001407863.1:c.3425A>G
BRCA1 transcript variant 159	NM_001407875.1:c.3344=	NM_001407875.1:c.3344A>T	NM_001407875.1:c.3344A>G
BRCA1 transcript variant 193	NM_001407926.1:c.3284=	NM_001407926.1:c.3284A>T	NM_001407926.1:c.3284A>G
BRCA1 transcript variant 202	NM_001407935.1:c.3284=	NM_001407935.1:c.3284A>T	NM_001407935.1:c.3284A>G
BRCA1 transcript variant 189	NM_001407922.1:c.3284=	NM_001407922.1:c.3284A>T	NM_001407922.1:c.3284A>G
BRCA1 transcript variant 229	NM_001407963.1:c.3167=	NM_001407963.1:c.3167A>T	NM_001407963.1:c.3167A>G
BRCA1 transcript variant 226	NM_001407959.1:c.3167=	NM_001407959.1:c.3167A>T	NM_001407959.1:c.3167A>G
BRCA1 transcript variant 198	NM_001407931.1:c.3281=	NM_001407931.1:c.3281A>T	NM_001407931.1:c.3281A>G
BRCA1 transcript variant 230	NM_001407964.1:c.3404=	NM_001407964.1:c.3404A>T	NM_001407964.1:c.3404A>G
BRCA1 transcript variant 232	NM_001407966.1:c.2660=	NM_001407966.1:c.2660A>T	NM_001407966.1:c.2660A>G
BRCA1 transcript variant 233	NM_001407967.1:c.2660=	NM_001407967.1:c.2660A>T	NM_001407967.1:c.2660A>G
BRCA1 transcript variant 234	NM_001407968.1:c.944=	NM_001407968.1:c.944A>T	NM_001407968.1:c.944A>G
BRCA1 transcript variant 235	NM_001407969.1:c.944=	NM_001407969.1:c.944A>T	NM_001407969.1:c.944A>G
BRCA1 transcript variant BRCA1b	NM_007295.2:c.3548=	NM_007295.2:c.3548A>T	NM_007295.2:c.3548A>G
BRCA1 transcript variant BRCA1-exon4	NM_007306.2:c.*3484=	NM_007306.2:c.*3484A>T	NM_007306.2:c.*3484A>G
BRCA1 transcript variant BRCA1a'	NM_007296.2:c.3548=	NM_007296.2:c.3548A>T	NM_007296.2:c.3548A>G
BRCA1 transcript variant 6	NR_027676.2:n.3725=	NR_027676.2:n.3725A>T	NR_027676.2:n.3725A>G
BRCA1 transcript variant BRCA1-delta9-10	NM_007302.2:c.3425=	NM_007302.2:c.3425A>T	NM_007302.2:c.3425A>G
BRCA1 transcript variant BRCA1-delta15-17	NM_007301.2:c.3548=	NM_007301.2:c.3548A>T	NM_007301.2:c.3548A>G
BRCA1 transcript variant BRCA1b	NM_007295.1:c.3548=	NM_007295.1:c.3548A>T	NM_007295.1:c.3548A>G
BRCA1 transcript variant BRCA1-exon4	NM_007306.1:c.*3484=	NM_007306.1:c.*3484A>T	NM_007306.1:c.*3484A>G
BRCA1 transcript variant 6	NR_027676.1:n.3684=	NR_027676.1:n.3684A>T	NR_027676.1:n.3684A>G
BRCA1 transcript variant BRCA1a'	NM_007296.1:c.3548=	NM_007296.1:c.3548A>T	NM_007296.1:c.3548A>G
BRCA1 transcript variant BRCA1-delta9-10	NM_007302.1:c.3425=	NM_007302.1:c.3425A>T	NM_007302.1:c.3425A>G
BRCA1 transcript variant BRCA1-delta15-17	NM_007301.1:c.3548=	NM_007301.1:c.3548A>T	NM_007301.1:c.3548A>G
breast cancer type 1 susceptibility protein isoform 2	NP_009231.2:p.Lys1183=	NP_009231.2:p.Lys1183Ile	NP_009231.2:p.Lys1183Arg
breast cancer type 1 susceptibility protein isoform 1	NP_009225.1:p.Lys1183=	NP_009225.1:p.Lys1183Ile	NP_009225.1:p.Lys1183Arg
breast cancer type 1 susceptibility protein isoform 3	NP_009228.2:p.Lys1136=	NP_009228.2:p.Lys1136Ile	NP_009228.2:p.Lys1136Arg
BRCA1 transcript variant 4	NM_007298.3:c.788-951=	NM_007298.3:c.788-951A>T	NM_007298.3:c.788-951A>G
BRCA1 transcript variant 5	NM_007299.3:c.788-951=	NM_007299.3:c.788-951A>T	NM_007299.3:c.788-951A>G
BRCA1 transcript variant 5	NM_007299.4:c.788-951=	NM_007299.4:c.788-951A>T	NM_007299.4:c.788-951A>G

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

182 SubSNP, 30 Frequency, 9 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF	ss19349	Sep 19, 2000 (60)
2	WIAF-CSNP	ss3172563	Aug 15, 2001 (98)
3	SNP500CANCER	ss5586285	Mar 31, 2003 (113)
4	EGP_SNPS	ss8486262	Aug 26, 2003 (117)
5	PERLEGEN	ss24588209	Sep 20, 2004 (123)
6	ILLUMINA	ss65725810	Oct 15, 2006 (127)
7	ILLUMINA	ss66706140	Nov 30, 2006 (127)
8	EGP_SNPS	ss66863053	Nov 30, 2006 (127)
9	ILLUMINA	ss67159480	Nov 30, 2006 (127)
10	ILLUMINA	ss67508177	Nov 30, 2006 (127)
11	PERLEGEN	ss69196502	May 17, 2007 (127)
12	ILLUMINA	ss70449125	May 17, 2007 (127)
13	ILLUMINA	ss70645770	May 25, 2008 (130)
14	ILLUMINA	ss71200201	May 17, 2007 (127)
15	AFFY	ss74806494	Aug 16, 2007 (128)
16	ILLUMINA	ss75827049	Dec 06, 2007 (129)
17	CGM_KYOTO	ss76864365	Dec 06, 2007 (129)
18	KRIBB_YJKIM	ss83351732	Dec 15, 2007 (130)
19	CANCER-GENOME	ss86344562	Mar 23, 2008 (129)
20	ICRCG	ss95209939	Mar 25, 2008 (129)
21	HUMANGENOME_JCVI	ss96594817	Feb 05, 2009 (130)
22	BGI	ss103346559	Dec 01, 2009 (131)
23	ILLUMINA	ss121779315	Dec 01, 2009 (131)
24	ILLUMINA	ss153581524	Dec 01, 2009 (131)
25	ILLUMINA	ss159298852	Dec 01, 2009 (131)
26	SEATTLESEQ	ss159735516	Dec 01, 2009 (131)
27	ILLUMINA	ss160400246	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss168163456	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss169638539	Jul 04, 2010 (132)
30	ILLUMINA	ss170726042	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss171405904	Jul 04, 2010 (132)
32	ILLUMINA	ss172671618	Jul 04, 2010 (132)
33	BIC_BRODY	ss187447012	May 08, 2010 (132)
34	BUSHMAN	ss202522007	Jul 04, 2010 (132)
35	BCM-HGSC-SUB	ss207917646	Jul 04, 2010 (132)
36	1000GENOMES	ss210913121	Jul 14, 2010 (132)
37	1000GENOMES	ss211799065	Jul 14, 2010 (132)
38	1000GENOMES	ss227549945	Jul 14, 2010 (132)
39	1000GENOMES	ss237244655	Jul 15, 2010 (132)
40	1000GENOMES	ss243542969	Jul 15, 2010 (132)
41	GMI	ss282767679	May 04, 2012 (137)
42	GMI	ss287181187	Apr 25, 2013 (138)
43	PJP	ss292052146	May 09, 2011 (134)
44	NHLBI-ESP	ss342455423	May 09, 2011 (134)
45	ILLUMINA	ss480114100	May 04, 2012 (137)
46	ILLUMINA	ss480123022	May 04, 2012 (137)
47	ILLUMINA	ss480817910	Sep 08, 2015 (146)
48	ILLUMINA	ss484854919	May 04, 2012 (137)
49	1000GENOMES	ss491124645	May 04, 2012 (137)
50	EXOME_CHIP	ss491523060	May 04, 2012 (137)
51	CLINSEQ_SNP	ss491737436	May 04, 2012 (137)
52	ILLUMINA	ss536922693	Sep 08, 2015 (146)
53	TISHKOFF	ss565275821	Apr 25, 2013 (138)
54	SSMP	ss661078518	Apr 25, 2013 (138)
55	ILLUMINA	ss778821696	Sep 08, 2015 (146)
56	ILLUMINA	ss780728885	Sep 08, 2015 (146)
57	ILLUMINA	ss782873966	Sep 08, 2015 (146)
58	ILLUMINA	ss783405130	Sep 08, 2015 (146)
59	ILLUMINA	ss783837949	Sep 08, 2015 (146)
60	ILLUMINA	ss825417858	Apr 01, 2015 (144)
61	ILLUMINA	ss832128170	Sep 08, 2015 (146)
62	ILLUMINA	ss832810941	Jul 13, 2019 (153)
63	ILLUMINA	ss834282047	Sep 08, 2015 (146)
64	JMKIDD_LAB	ss974499005	Aug 21, 2014 (142)
65	EVA-GONL	ss993111847	Aug 21, 2014 (142)
66	JMKIDD_LAB	ss1067571820	Aug 21, 2014 (142)
67	JMKIDD_LAB	ss1081061633	Aug 21, 2014 (142)
68	1000GENOMES	ss1358672889	Aug 21, 2014 (142)
69	HAMMER_LAB	ss1397730492	Sep 08, 2015 (146)
70	DDI	ss1428034598	Apr 01, 2015 (144)
71	EVA_GENOME_DK	ss1578158778	Apr 01, 2015 (144)
72	EVA_FINRISK	ss1584106511	Apr 01, 2015 (144)
73	EVA_UK10K_ALSPAC	ss1635661352	Apr 01, 2015 (144)
74	EVA_UK10K_TWINSUK	ss1678655385	Apr 01, 2015 (144)
75	EVA_EXAC	ss1692801571	Apr 01, 2015 (144)
76	EVA_DECODE	ss1697154992	Apr 01, 2015 (144)
77	EVA_MGP	ss1711461880	Apr 01, 2015 (144)
78	EVA_SVP	ss1713582853	Apr 01, 2015 (144)
79	ILLUMINA	ss1752226222	Sep 08, 2015 (146)
80	ILLUMINA	ss1752226223	Sep 08, 2015 (146)
81	HAMMER_LAB	ss1808784837	Sep 08, 2015 (146)
82	ILLUMINA	ss1917918850	Feb 12, 2016 (147)
83	WEILL_CORNELL_DGM	ss1936572331	Feb 12, 2016 (147)
84	ILLUMINA	ss1946449146	Feb 12, 2016 (147)
85	ILLUMINA	ss1959747704	Feb 12, 2016 (147)
86	GENOMED	ss1968390630	Jul 19, 2016 (147)
87	JJLAB	ss2029063262	Sep 14, 2016 (149)
88	USC_VALOUEV	ss2157533616	Dec 20, 2016 (150)
89	HUMAN_LONGEVITY	ss2216878851	Dec 20, 2016 (150)
90	ILLUMINA	ss2633397342	Nov 08, 2017 (151)
91	GRF	ss2702095841	Nov 08, 2017 (151)
92	ILLUMINA	ss2710849136	Nov 08, 2017 (151)
93	GNOMAD	ss2742751729	Nov 08, 2017 (151)
94	GNOMAD	ss2749784947	Nov 08, 2017 (151)
95	GNOMAD	ss2949920332	Nov 08, 2017 (151)
96	AFFY	ss2985096768	Nov 08, 2017 (151)
97	AFFY	ss2985731386	Nov 08, 2017 (151)
98	SWEGEN	ss3015541394	Nov 08, 2017 (151)
99	ILLUMINA	ss3021780967	Nov 08, 2017 (151)
100	BIOINF_KMB_FNS_UNIBA	ss3028351701	Nov 08, 2017 (151)
101	CSHL	ss3351748223	Nov 08, 2017 (151)
102	ILLUMINA	ss3627670986	Oct 12, 2018 (152)
103	ILLUMINA	ss3627670987	Oct 12, 2018 (152)
104	ILLUMINA	ss3631378404	Oct 12, 2018 (152)
105	ILLUMINA	ss3633141700	Oct 12, 2018 (152)
106	ILLUMINA	ss3633849239	Oct 12, 2018 (152)
107	ILLUMINA	ss3634675687	Oct 12, 2018 (152)
108	ILLUMINA	ss3634675688	Oct 12, 2018 (152)
109	ILLUMINA	ss3635536993	Oct 12, 2018 (152)
110	ILLUMINA	ss3636365411	Oct 12, 2018 (152)
111	ILLUMINA	ss3637288539	Oct 12, 2018 (152)
112	ILLUMINA	ss3638161786	Oct 12, 2018 (152)
113	ILLUMINA	ss3639090115	Oct 12, 2018 (152)
114	ILLUMINA	ss3639552059	Oct 12, 2018 (152)
115	ILLUMINA	ss3640382999	Oct 12, 2018 (152)
116	ILLUMINA	ss3640383000	Oct 12, 2018 (152)
117	ILLUMINA	ss3643140178	Oct 12, 2018 (152)
118	ILLUMINA	ss3644688634	Oct 12, 2018 (152)
119	OMUKHERJEE_ADBS	ss3646511803	Oct 12, 2018 (152)
120	URBANLAB	ss3650656234	Oct 12, 2018 (152)
121	ILLUMINA	ss3652197706	Oct 12, 2018 (152)
122	ILLUMINA	ss3653868044	Oct 12, 2018 (152)
123	EGCUT_WGS	ss3682429184	Jul 13, 2019 (153)
124	EVA_DECODE	ss3700474239	Jul 13, 2019 (153)
125	ILLUMINA	ss3725622461	Jul 13, 2019 (153)
126	ACPOP	ss3742029530	Jul 13, 2019 (153)
127	ILLUMINA	ss3744444196	Jul 13, 2019 (153)
128	ILLUMINA	ss3744975982	Jul 13, 2019 (153)
129	ILLUMINA	ss3744975983	Jul 13, 2019 (153)
130	EVA	ss3754672423	Jul 13, 2019 (153)
131	PAGE_CC	ss3771928458	Jul 13, 2019 (153)
132	ILLUMINA	ss3772473859	Jul 13, 2019 (153)
133	ILLUMINA	ss3772473860	Jul 13, 2019 (153)
134	KHV_HUMAN_GENOMES	ss3819941789	Jul 13, 2019 (153)
135	EVA	ss3825118585	Apr 27, 2020 (154)
136	EVA	ss3825900158	Apr 27, 2020 (154)
137	EVA	ss3834869626	Apr 27, 2020 (154)
138	EVA	ss3841044751	Apr 27, 2020 (154)
139	EVA	ss3846541625	Apr 27, 2020 (154)
140	HGDP	ss3847564174	Apr 27, 2020 (154)
141	SGDP_PRJ	ss3885758074	Apr 27, 2020 (154)
142	KRGDB	ss3935445760	Apr 27, 2020 (154)
143	KOGIC	ss3978852731	Apr 27, 2020 (154)
144	FSA-LAB	ss3984116216	Apr 27, 2021 (155)
145	EVA	ss3984723283	Apr 27, 2021 (155)
146	EVA	ss3985791335	Apr 27, 2021 (155)
147	EVA	ss3986074621	Apr 27, 2021 (155)
148	EVA	ss3986728634	Apr 27, 2021 (155)
149	EVA	ss4017767168	Apr 27, 2021 (155)
150	TOPMED	ss5036140026	Apr 27, 2021 (155)
151	TOMMO_GENOMICS	ss5222435891	Apr 27, 2021 (155)
152	CPQ_GEN_INCA	ss5236854252	Apr 27, 2021 (155)
153	CPQ_GEN_INCA	ss5236858181	Apr 27, 2021 (155)
154	CPQ_GEN_INCA	ss5236858182	Apr 27, 2021 (155)
155	EVA	ss5236943397	Apr 27, 2021 (155)
156	EVA	ss5237239369	Apr 27, 2021 (155)
157	EVA	ss5237669076	Oct 17, 2022 (156)
158	1000G_HIGH_COVERAGE	ss5303148659	Oct 17, 2022 (156)
159	TRAN_CS_UWATERLOO	ss5314448235	Oct 17, 2022 (156)
160	EVA	ss5315886982	Oct 17, 2022 (156)
161	EVA	ss5427624172	Oct 17, 2022 (156)
162	CSS-BFX	ss5442110482	Oct 17, 2022 (156)
163	HUGCELL_USP	ss5496202812	Oct 17, 2022 (156)
164	EVA	ss5511767293	Oct 17, 2022 (156)
165	1000G_HIGH_COVERAGE	ss5606876441	Oct 17, 2022 (156)
166	EVA	ss5623894009	Oct 17, 2022 (156)
167	EVA	ss5624072920	Oct 17, 2022 (156)
168	SANFORD_IMAGENETICS	ss5624397307	Oct 17, 2022 (156)
169	SANFORD_IMAGENETICS	ss5660112134	Oct 17, 2022 (156)
170	TOMMO_GENOMICS	ss5778650999	Oct 17, 2022 (156)
171	EVA	ss5799458930	Oct 17, 2022 (156)
172	EVA	ss5799975714	Oct 17, 2022 (156)
173	YY_MCH	ss5816546457	Oct 17, 2022 (156)
174	EVA	ss5833989411	Oct 17, 2022 (156)
175	EVA	ss5847474822	Oct 17, 2022 (156)
176	EVA	ss5847798043	Oct 17, 2022 (156)
177	EVA	ss5848450162	Oct 17, 2022 (156)
178	EVA	ss5851810244	Oct 17, 2022 (156)
179	EVA	ss5913976258	Oct 17, 2022 (156)
180	EVA	ss5936567777	Oct 17, 2022 (156)
181	EVA	ss5951505568	Oct 17, 2022 (156)
182	EVA	ss5979507342	Oct 17, 2022 (156)
183	1000Genomes	NC_000017.10 - 41244000	Oct 12, 2018 (152)
184	1000Genomes_30x	NC_000017.11 - 43091983	Oct 17, 2022 (156)
185	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 41244000	Oct 12, 2018 (152)
186	Genome-wide autozygosity in Daghestan	NC_000017.9 - 38497526	Apr 27, 2020 (154)
187	Genetic variation in the Estonian population	NC_000017.10 - 41244000	Oct 12, 2018 (152)
188	ExAC	NC_000017.10 - 41244000	Oct 12, 2018 (152)
189	FINRISK	NC_000017.10 - 41244000	Apr 27, 2020 (154)
190	The Danish reference pan genome	NC_000017.10 - 41244000	Apr 27, 2020 (154)
191	gnomAD - Genomes	NC_000017.11 - 43091983	Apr 27, 2021 (155)
192	gnomAD - Exomes	NC_000017.10 - 41244000	Jul 13, 2019 (153)
193	GO Exome Sequencing Project	NC_000017.10 - 41244000	Oct 12, 2018 (152)
194	Genome of the Netherlands Release 5	NC_000017.10 - 41244000	Apr 27, 2020 (154)
195	HGDP-CEPH-db Supplement 1	NC_000017.9 - 38497526	Apr 27, 2020 (154)
196	HapMap	NC_000017.11 - 43091983	Apr 27, 2020 (154)
197	KOREAN population from KRGDB	NC_000017.10 - 41244000	Apr 27, 2020 (154)
198	Korean Genome Project	NC_000017.11 - 43091983	Apr 27, 2020 (154)
199	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 41244000	Apr 27, 2020 (154)
200	Northern Sweden	NC_000017.10 - 41244000	Jul 13, 2019 (153)
201	The PAGE Study	NC_000017.11 - 43091983	Jul 13, 2019 (153)
202	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 41244000	Apr 27, 2021 (155)
203	CNV burdens in cranial meningiomas	NC_000017.10 - 41244000	Apr 27, 2021 (155)
204	Qatari	NC_000017.10 - 41244000	Apr 27, 2020 (154)
205	SGDP_PRJ	NC_000017.10 - 41244000	Apr 27, 2020 (154)
206	Siberian	NC_000017.10 - 41244000	Apr 27, 2020 (154)
207	8.3KJPN	NC_000017.10 - 41244000	Apr 27, 2021 (155)
208	14KJPN	NC_000017.11 - 43091983	Oct 17, 2022 (156)
209	TopMed	NC_000017.11 - 43091983	Apr 27, 2021 (155)
210	UK 10K study - Twins	NC_000017.10 - 41244000	Oct 12, 2018 (152)
211	A Vietnamese Genetic Variation Database	NC_000017.10 - 41244000	Jul 13, 2019 (153)
212	ALFA	NC_000017.11 - 43091983	Apr 27, 2021 (155)
213	ClinVar	RCV000034742.11	Oct 17, 2022 (156)
214	ClinVar	RCV000048229.13	Oct 17, 2022 (156)
215	ClinVar	RCV000112115.12	Oct 17, 2022 (156)
216	ClinVar	RCV000120278.20	Oct 17, 2022 (156)
217	ClinVar	RCV000128991.5	Oct 17, 2022 (156)
218	ClinVar	RCV000460753.5	Oct 17, 2022 (156)
219	ClinVar	RCV000637591.3	Oct 17, 2022 (156)
220	ClinVar	RCV000770891.2	Oct 17, 2022 (156)
221	ClinVar	RCV000776822.4	Oct 17, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs17672119	Oct 08, 2004 (123)
rs52827882	Sep 21, 2007 (128)
rs59688547	May 25, 2008 (130)
rs386541424	Jun 30, 2014 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
42623154, ss3935445760	NC_000017.10:41243999:T:A	NC_000017.11:43091982:T:A	(self)
RCV000637591.3, RCV000776822.4, 5593091712	NC_000017.11:43091982:T:A	NC_000017.11:43091982:T:A	(self)
200369, 242066, ss168163456, ss169638539, ss171405904, ss202522007, ss207917646, ss210913121, ss211799065, ss282767679, ss287181187, ss292052146, ss480114100, ss491737436, ss825417858, ss1397730492, ss1697154992, ss1713582853, ss3639090115, ss3639552059, ss3643140178, ss3847564174	NC_000017.9:38497525:T:C	NC_000017.11:43091982:T:C	(self)
71915232, 39858017, 28167432, 3246681, 102972, 4361126, 12056861, 1575676, 17763774, 42623154, 577640, 15314395, 1017262, 272829, 18614253, 37775054, 10049970, 80405198, 39858017, 8819793, ss227549945, ss237244655, ss243542969, ss342455423, ss480123022, ss480817910, ss484854919, ss491124645, ss491523060, ss536922693, ss565275821, ss661078518, ss778821696, ss780728885, ss782873966, ss783405130, ss783837949, ss832128170, ss832810941, ss834282047, ss974499005, ss993111847, ss1067571820, ss1081061633, ss1358672889, ss1428034598, ss1578158778, ss1584106511, ss1635661352, ss1678655385, ss1692801571, ss1711461880, ss1752226222, ss1752226223, ss1808784837, ss1917918850, ss1936572331, ss1946449146, ss1959747704, ss1968390630, ss2029063262, ss2157533616, ss2633397342, ss2702095841, ss2710849136, ss2742751729, ss2749784947, ss2949920332, ss2985096768, ss2985731386, ss3015541394, ss3021780967, ss3351748223, ss3627670986, ss3627670987, ss3631378404, ss3633141700, ss3633849239, ss3634675687, ss3634675688, ss3635536993, ss3636365411, ss3637288539, ss3638161786, ss3640382999, ss3640383000, ss3644688634, ss3646511803, ss3652197706, ss3653868044, ss3682429184, ss3742029530, ss3744444196, ss3744975982, ss3744975983, ss3754672423, ss3772473859, ss3772473860, ss3825118585, ss3825900158, ss3834869626, ss3841044751, ss3885758074, ss3935445760, ss3984116216, ss3984723283, ss3985791335, ss3986074621, ss3986728634, ss4017767168, ss5222435891, ss5236854252, ss5236858181, ss5236858182, ss5315886982, ss5427624172, ss5442110482, ss5511767293, ss5623894009, ss5624072920, ss5624397307, ss5660112134, ss5799458930, ss5799975714, ss5833989411, ss5847474822, ss5847798043, ss5848450162, ss5936567777, ss5951505568, ss5979507342	NC_000017.10:41243999:T:C	NC_000017.11:43091982:T:C	(self)
RCV000034742.11, RCV000048229.13, RCV000112115.12, RCV000120278.20, RCV000128991.5, RCV000460753.5, RCV000770891.2, 94402376, 507372401, 1488915, 35230732, 1149927, 112488103, 251685688, 5593091712, ss187447012, ss2216878851, ss3028351701, ss3650656234, ss3700474239, ss3725622461, ss3771928458, ss3819941789, ss3846541625, ss3978852731, ss5036140026, ss5236943397, ss5237239369, ss5237669076, ss5303148659, ss5314448235, ss5496202812, ss5606876441, ss5778650999, ss5816546457, ss5851810244, ss5913976258	NC_000017.11:43091982:T:C	NC_000017.11:43091982:T:C	(self)
ss19349, ss3172563, ss5586285, ss8486262, ss24588209, ss65725810, ss66706140, ss66863053, ss67159480, ss67508177, ss69196502, ss70449125, ss70645770, ss71200201, ss74806494, ss75827049, ss76864365, ss83351732, ss86344562, ss95209939, ss96594817, ss103346559, ss121779315, ss153581524, ss159298852, ss159735516, ss160400246, ss170726042, ss172671618	NT_010783.15:6518151:T:C	NC_000017.11:43091982:T:C	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

30 citations for rs16942

PMID	Title	Author	Year	Journal
12872265	BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy.	Stuppia L et al.	2003	Human mutation
16026807	BRCA1 mutations and polymorphisms in a hospital-based consecutive series of breast cancer patients from Apulia, Italy.	Tommasi S et al.	2005	Mutation research
18830263	Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.	Wang SS et al.	2009	Leukemia
19644020	Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.	De Leeneer K et al.	2009	The Journal of molecular diagnostics
20104584	Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.	Borg A et al.	2010	Human mutation
20233625	Translational research in the Gynecologic Oncology Group: evaluation of ovarian cancer markers, profiles, and novel therapies.	Darcy KM et al.	2010	Gynecologic oncology
20807450	Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age.	Turkovic L et al.	2010	BMC cancer
21161372	Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.	Figueiredo JC et al.	2011	Breast cancer research and treatment
21204206	Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.	Carter TC et al.	2011	American journal of medical genetics. Part A
21597964	Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.	Im KM et al.	2011	Human genetics
21702907	A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.	Hondow HL et al.	2011	BMC cancer
21708019	Association of Rad51 polymorphism with DNA repair in BRCA1 mutation carriers and sporadic breast cancer risk.	Ricks-Santi LJ et al.	2011	BMC cancer
21766209	Genetic predictors of taxane-induced neurotoxicity in a SWOG phase III intergroup adjuvant breast cancer treatment trial (S0221).	Sucheston LE et al.	2011	Breast cancer research and treatment
21890493	Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.	Cox DG et al.	2011	Human molecular genetics
21990134	A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).	Lindor NM et al.	2012	Human mutation
22703879	Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.	Johnston JJ et al.	2012	American journal of human genetics
23313170	Analysis of single nucleotide polymorphisms and radiation sensitivity of the lung assessed with an objective radiologic endpoin.	Kelsey CR et al.	2013	Clinical lung cancer
23961350	BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.	Solano AR et al.	2012	SpringerPlus
24728327	Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.	Bodian DL et al.	2014	PloS one
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
26012346	Effect of genetic ancestry on leukocyte global DNA methylation in cancer patients.	Cappetta M et al.	2015	BMC cancer
26559640	Automated amplicon design suitable for analysis of DNA variants by melting techniques.	Ekstrøm PO et al.	2015	BMC research notes
27478808	Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.	Zorrieh Zahra A et al.	2016	International journal of molecular and cellular medicine
27698805	Genetic landscape of a case of extraovarian peritoneal serous papillary carcinoma.	Cheng Z et al.	2016	Oncology letters
28439188	Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.	Ricks-Santi L et al.	2017	Ethnicity & disease
29458332	Identification of genetic variants for clinical management of familial colorectal tumors.	Dominguez-Valentin M et al.	2018	BMC medical genetics
30594178	A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci.	Hamdi Y et al.	2018	BMC cancer
31203256	Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.	Sagna T et al.	2019	Biomolecular concepts
32039725	Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.	da Costa E Silva Carvalho S et al.	2020	BMC medical genomics
33126731	Genomic Diversity in Sporadic Breast Cancer in a Latin American Population.	Brignoni L et al.	2020	Genes

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs16942