dbSNP Short Genetic Variations
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.
rs80357842
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr17:43091670-43091675 (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
- delCACT
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
delCACT=0.000004 (1/264690, TOPMED)delCACT=0.000008 (2/251128, GnomAD_exome)delCACT=0.00000 (0/10680, ALFA)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- BRCA1 : Frameshift Variant
- Publications
- 4 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 | 10680 | CTCACT=1.00000 | CT=0.00000 |
| European | Sub | 6962 | CTCACT=1.0000 | CT=0.0000 |
| African | Sub | 2294 | CTCACT=1.0000 | CT=0.0000 |
| African Others | Sub | 84 | CTCACT=1.00 | CT=0.00 |
| African American | Sub | 2210 | CTCACT=1.0000 | CT=0.0000 |
| Asian | Sub | 108 | CTCACT=1.000 | CT=0.000 |
| East Asian | Sub | 84 | CTCACT=1.00 | CT=0.00 |
| Other Asian | Sub | 24 | CTCACT=1.00 | CT=0.00 |
| Latin American 1 | Sub | 146 | CTCACT=1.000 | CT=0.000 |
| Latin American 2 | Sub | 610 | CTCACT=1.000 | CT=0.000 |
| South Asian | Sub | 94 | CTCACT=1.00 | CT=0.00 |
| Other | Sub | 466 | CTCACT=1.000 | CT=0.000 |
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").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | CTCACT=0.999996 | delCACT=0.000004 |
| gnomAD - Exomes | Global | Study-wide | 251128 | CTCACT=0.999992 | delCACT=0.000008 |
| gnomAD - Exomes | European | Sub | 135070 | CTCACT=1.000000 | delCACT=0.000000 |
| gnomAD - Exomes | Asian | Sub | 49008 | CTCACT=1.00000 | delCACT=0.00000 |
| gnomAD - Exomes | American | Sub | 34588 | CTCACT=0.99994 | delCACT=0.00006 |
| gnomAD - Exomes | African | Sub | 16256 | CTCACT=1.00000 | delCACT=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10076 | CTCACT=1.00000 | delCACT=0.00000 |
| gnomAD - Exomes | Other | Sub | 6130 | CTCACT=1.0000 | delCACT=0.0000 |
| Allele Frequency Aggregator | Total | Global | 10680 | CTCACT=1.00000 | delCACT=0.00000 |
| Allele Frequency Aggregator | European | Sub | 6962 | CTCACT=1.0000 | delCACT=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2294 | CTCACT=1.0000 | delCACT=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | CTCACT=1.000 | delCACT=0.000 |
| Allele Frequency Aggregator | Other | Sub | 466 | CTCACT=1.000 | delCACT=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | CTCACT=1.000 | delCACT=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 108 | CTCACT=1.000 | delCACT=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 94 | CTCACT=1.00 | delCACT=0.00 |
Help
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.43091672_43091675del |
| GRCh37.p13 chr 17 | NC_000017.10:g.41243689_41243692del |
| BRCA1 RefSeqGene (LRG_292) | NG_005905.2:g.126311_126314del |
Gene: BRCA1, BRCA1 DNA repair associated
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| BRCA1 transcript variant 4 |
NM_007298.3:c.788-641_788… NM_007298.3:c.788-641_788-638del |
N/A | Intron Variant |
| BRCA1 transcript variant 5 |
NM_007299.4:c.788-641_788… NM_007299.4:c.788-641_788-638del |
N/A | Intron Variant |
| BRCA1 transcript variant 3 | NM_007297.4:c.3717_3720del | S [AGT] > R [AG] | Coding Sequence Variant |
| breast cancer type 1 susceptibility protein isoform 3 | NP_009228.2:p.Ser1239fs | S (Ser) > R (Arg) | Frameshift Variant |
| BRCA1 transcript variant 2 | NM_007300.4:c.3858_3861del | S [AGT] > R [AG] | Coding Sequence Variant |
| breast cancer type 1 susceptibility protein isoform 2 | NP_009231.2:p.Ser1286fs | S (Ser) > R (Arg) | Frameshift Variant |
| BRCA1 transcript variant 1 | NM_007294.4:c.3858_3861del | S [AGT] > R [AG] | Coding Sequence Variant |
| breast cancer type 1 susceptibility protein isoform 1 | NP_009225.1:p.Ser1286fs | S (Ser) > R (Arg) | Frameshift Variant |
| BRCA1 transcript variant 6 | NR_027676.2:n.4035_4038del | N/A | Non Coding Transcript Variant |
Help
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: delCACT (allele ID:
46109
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000031134.10 | Breast-ovarian cancer, familial, susceptibility to, 1 | Pathogenic |
| RCV000048359.11 | Hereditary breast ovarian cancer syndrome | Pathogenic |
| RCV000508686.4 | not provided | Pathogenic |
| RCV000509638.5 | Hereditary cancer-predisposing syndrome | Pathogenic |
Help
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 | CTCACT= | delCACT |
|---|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.43091670_43091675= | NC_000017.11:g.43091672_43091675del |
| GRCh37.p13 chr 17 | NC_000017.10:g.41243687_41243692= | NC_000017.10:g.41243689_41243692del |
| BRCA1 RefSeqGene (LRG_292) | NG_005905.2:g.126309_126314= | NG_005905.2:g.126311_126314del |
| BRCA1 transcript variant 2 | NM_007300.4:c.3856_3861= | NM_007300.4:c.3858_3861del |
| BRCA1 transcript variant 2 | NM_007300.3:c.3856_3861= | NM_007300.3:c.3858_3861del |
| BRCA1 transcript variant 1 | NM_007294.4:c.3856_3861= | NM_007294.4:c.3858_3861del |
| BRCA1 transcript variant 1 | NM_007294.3:c.3856_3861= | NM_007294.3:c.3858_3861del |
| BRCA1 transcript variant 3 | NM_007297.4:c.3715_3720= | NM_007297.4:c.3717_3720del |
| BRCA1 transcript variant 3 | NM_007297.3:c.3715_3720= | NM_007297.3:c.3717_3720del |
| BRCA1 transcript variant 14 | NM_001407593.1:c.3856_3861= | NM_001407593.1:c.3858_3861del |
| BRCA1 transcript variant 33 | NM_001407621.1:c.3856_3861= | NM_001407621.1:c.3858_3861del |
| BRCA1 transcript variant 22 | NM_001407610.1:c.3853_3858= | NM_001407610.1:c.3855_3858del |
| BRCA1 transcript variant 46 | NM_001407634.1:c.3853_3858= | NM_001407634.1:c.3855_3858del |
| BRCA1 transcript variant 105 | NM_001407697.1:c.3715_3720= | NM_001407697.1:c.3717_3720del |
| BRCA1 transcript variant 124 | NM_001407741.1:c.3712_3717= | NM_001407741.1:c.3714_3717del |
| BRCA1 transcript variant 107 | NM_001407724.1:c.3715_3720= | NM_001407724.1:c.3717_3720del |
| BRCA1 transcript variant 136 | NM_001407838.1:c.3712_3717= | NM_001407838.1:c.3714_3717del |
| BRCA1 transcript variant 9 | NM_001407583.1:c.3856_3861= | NM_001407583.1:c.3858_3861del |
| BRCA1 transcript variant 13 | NM_001407591.1:c.3853_3858= | NM_001407591.1:c.3855_3858del |
| BRCA1 transcript variant 15 | NM_001407594.1:c.3856_3861= | NM_001407594.1:c.3858_3861del |
| BRCA1 transcript variant 37 | NM_001407625.1:c.3856_3861= | NM_001407625.1:c.3858_3861del |
| BRCA1 transcript variant 31 | NM_001407619.1:c.3856_3861= | NM_001407619.1:c.3858_3861del |
| BRCA1 transcript variant 27 | NM_001407615.1:c.3853_3858= | NM_001407615.1:c.3855_3858del |
| BRCA1 transcript variant 54 | NM_001407642.1:c.3856_3861= | NM_001407642.1:c.3858_3861del |
| BRCA1 transcript variant 45 | NM_001407633.1:c.3853_3858= | NM_001407633.1:c.3855_3858del |
| BRCA1 transcript variant 42 | NM_001407630.1:c.3853_3858= | NM_001407630.1:c.3855_3858del |
| BRCA1 transcript variant 21 | NM_001407605.1:c.3856_3861= | NM_001407605.1:c.3858_3861del |
| BRCA1 transcript variant 35 | NM_001407623.1:c.3856_3861= | NM_001407623.1:c.3858_3861del |
| BRCA1 transcript variant 162 | NM_001407882.1:c.3646_3651= | NM_001407882.1:c.3648_3651del |
| BRCA1 transcript variant 179 | NM_001407908.1:c.3646_3651= | NM_001407908.1:c.3648_3651del |
| BRCA1 transcript variant 171 | NM_001407897.1:c.3643_3648= | NM_001407897.1:c.3645_3648del |
| BRCA1 transcript variant 64 | NM_001407655.1:c.3778_3783= | NM_001407655.1:c.3780_3783del |
| BRCA1 transcript variant 175 | NM_001407902.1:c.3646_3651= | NM_001407902.1:c.3648_3651del |
| BRCA1 transcript variant 78 | NM_001407669.1:c.3733_3738= | NM_001407669.1:c.3735_3738del |
| BRCA1 transcript variant 86 | NM_001407677.1:c.3733_3738= | NM_001407677.1:c.3735_3738del |
| BRCA1 transcript variant 83 | NM_001407674.1:c.3733_3738= | NM_001407674.1:c.3735_3738del |
| BRCA1 transcript variant 82 | NM_001407673.1:c.3730_3735= | NM_001407673.1:c.3732_3735del |
| BRCA1 transcript variant 96 | NM_001407687.1:c.3730_3735= | NM_001407687.1:c.3732_3735del |
| BRCA1 transcript variant 93 | NM_001407684.1:c.3856_3861= | NM_001407684.1:c.3858_3861del |
| BRCA1 transcript variant 92 | NM_001407683.1:c.3733_3738= | NM_001407683.1:c.3735_3738del |
| BRCA1 transcript variant 99 | NM_001407690.1:c.3730_3735= | NM_001407690.1:c.3732_3735del |
| BRCA1 transcript variant 214 | NM_001407947.1:c.3523_3528= | NM_001407947.1:c.3525_3528del |
| BRCA1 transcript variant 223 | NM_001407956.1:c.3520_3525= | NM_001407956.1:c.3522_3525del |
| BRCA1 transcript variant 204 | NM_001407937.1:c.3733_3738= | NM_001407937.1:c.3735_3738del |
| BRCA1 transcript variant 206 | NM_001407939.1:c.3733_3738= | NM_001407939.1:c.3735_3738del |
| BRCA1 transcript variant 208 | NM_001407941.1:c.3730_3735= | NM_001407941.1:c.3732_3735del |
| BRCA1 transcript variant 110 | NM_001407727.1:c.3715_3720= | NM_001407727.1:c.3717_3720del |
| BRCA1 transcript variant 186 | NM_001407919.1:c.3733_3738= | NM_001407919.1:c.3735_3738del |
| BRCA1 transcript variant 104 | NM_001407696.1:c.3715_3720= | NM_001407696.1:c.3717_3720del |
| BRCA1 transcript variant 184 | NM_001407917.1:c.3643_3648= | NM_001407917.1:c.3645_3648del |
| BRCA1 transcript variant 16 | NM_001407596.1:c.3856_3861= | NM_001407596.1:c.3858_3861del |
| BRCA1 transcript variant 8 | NM_001407582.1:c.3856_3861= | NM_001407582.1:c.3858_3861del |
| BRCA1 transcript variant 143 | NM_001407846.1:c.3712_3717= | NM_001407846.1:c.3714_3717del |
| BRCA1 transcript variant 108 | NM_001407725.1:c.3715_3720= | NM_001407725.1:c.3717_3720del |
| BRCA1 transcript variant 123 | NM_001407740.1:c.3712_3717= | NM_001407740.1:c.3714_3717del |
| BRCA1 transcript variant 122 | NM_001407739.1:c.3715_3720= | NM_001407739.1:c.3717_3720del |
| BRCA1 transcript variant 102 | NM_001407694.1:c.3715_3720= | NM_001407694.1:c.3717_3720del |
| BRCA1 transcript variant 103 | NM_001407695.1:c.3715_3720= | NM_001407695.1:c.3717_3720del |
| BRCA1 transcript variant 144 | NM_001407847.1:c.3712_3717= | NM_001407847.1:c.3714_3717del |
| BRCA1 transcript variant 116 | NM_001407733.1:c.3715_3720= | NM_001407733.1:c.3717_3720del |
| BRCA1 transcript variant 113 | NM_001407730.1:c.3715_3720= | NM_001407730.1:c.3717_3720del |
| BRCA1 transcript variant 140 | NM_001407843.1:c.3712_3717= | NM_001407843.1:c.3714_3717del |
| BRCA1 transcript variant 135 | NM_001407752.1:c.3715_3720= | NM_001407752.1:c.3717_3720del |
| BRCA1 transcript variant 131 | NM_001407748.1:c.3712_3717= | NM_001407748.1:c.3714_3717del |
| BRCA1 transcript variant 117 | NM_001407734.1:c.3715_3720= | NM_001407734.1:c.3717_3720del |
| BRCA1 transcript variant 114 | NM_001407731.1:c.3715_3720= | NM_001407731.1:c.3717_3720del |
| BRCA1 transcript variant 147 | NM_001407850.1:c.3715_3720= | NM_001407850.1:c.3717_3720del |
| BRCA1 transcript variant 132 | NM_001407749.1:c.3712_3717= | NM_001407749.1:c.3714_3717del |
| BRCA1 transcript variant 139 | NM_001407842.1:c.3712_3717= | NM_001407842.1:c.3714_3717del |
| BRCA1 transcript variant 17 | NM_001407597.1:c.3856_3861= | NM_001407597.1:c.3858_3861del |
| BRCA1 transcript variant 167 | NM_001407889.1:c.3646_3651= | NM_001407889.1:c.3648_3651del |
| BRCA1 transcript variant 32 | NM_001407620.1:c.3856_3861= | NM_001407620.1:c.3858_3861del |
| BRCA1 transcript variant 24 | NM_001407612.1:c.3853_3858= | NM_001407612.1:c.3855_3858del |
| BRCA1 transcript variant 51 | NM_001407639.1:c.3856_3861= | NM_001407639.1:c.3858_3861del |
| BRCA1 transcript variant 48 | NM_001407636.1:c.3853_3858= | NM_001407636.1:c.3855_3858del |
| BRCA1 transcript variant 41 | NM_001407629.1:c.3853_3858= | NM_001407629.1:c.3855_3858del |
| BRCA1 transcript variant 174 | NM_001407900.1:c.3646_3651= | NM_001407900.1:c.3648_3651del |
| BRCA1 transcript variant 138 | NM_001407841.1:c.3712_3717= | NM_001407841.1:c.3714_3717del |
| BRCA1 transcript variant 160 | NM_001407879.1:c.3646_3651= | NM_001407879.1:c.3648_3651del |
| BRCA1 transcript variant 7 | NM_001407581.1:c.3856_3861= | NM_001407581.1:c.3858_3861del |
| BRCA1 transcript variant 178 | NM_001407907.1:c.3646_3651= | NM_001407907.1:c.3648_3651del |
| BRCA1 transcript variant 6 | NM_001407571.1:c.3643_3648= | NM_001407571.1:c.3645_3648del |
| BRCA1 transcript variant 134 | NM_001407751.1:c.3715_3720= | NM_001407751.1:c.3717_3720del |
| BRCA1 transcript variant 12 | NM_001407590.1:c.3853_3858= | NM_001407590.1:c.3855_3858del |
| BRCA1 transcript variant 109 | NM_001407726.1:c.3715_3720= | NM_001407726.1:c.3717_3720del |
| BRCA1 transcript variant 11 | NM_001407587.1:c.3853_3858= | NM_001407587.1:c.3855_3858del |
| BRCA1 transcript variant 10 | NM_001407585.1:c.3856_3861= | NM_001407585.1:c.3858_3861del |
| BRCA1 transcript variant 209 | NM_001407942.1:c.3715_3720= | NM_001407942.1:c.3717_3720del |
| BRCA1 transcript variant 150 | NM_001407853.1:c.3643_3648= | NM_001407853.1:c.3645_3648del |
| BRCA1 transcript variant 211 | NM_001407944.1:c.3715_3720= | NM_001407944.1:c.3717_3720del |
| BRCA1 transcript variant 210 | NM_001407943.1:c.3712_3717= | NM_001407943.1:c.3714_3717del |
| BRCA1 transcript variant 187 | NM_001407920.1:c.3592_3597= | NM_001407920.1:c.3594_3597del |
| BRCA1 transcript variant 153 | NM_001407859.1:c.3856_3861= | NM_001407859.1:c.3858_3861del |
| BRCA1 transcript variant 129 | NM_001407746.1:c.3712_3717= | NM_001407746.1:c.3714_3717del |
| BRCA1 transcript variant 36 | NM_001407624.1:c.3856_3861= | NM_001407624.1:c.3858_3861del |
| BRCA1 transcript variant 28 | NM_001407616.1:c.3856_3861= | NM_001407616.1:c.3858_3861del |
| BRCA1 transcript variant 23 | NM_001407611.1:c.3853_3858= | NM_001407611.1:c.3855_3858del |
| BRCA1 transcript variant 190 | NM_001407923.1:c.3592_3597= | NM_001407923.1:c.3594_3597del |
| BRCA1 transcript variant 53 | NM_001407641.1:c.3856_3861= | NM_001407641.1:c.3858_3861del |
| BRCA1 transcript variant 49 | NM_001407637.1:c.3853_3858= | NM_001407637.1:c.3855_3858del |
| BRCA1 transcript variant 40 | NM_001407628.1:c.3853_3858= | NM_001407628.1:c.3855_3858del |
| BRCA1 transcript variant 18 | NM_001407598.1:c.3856_3861= | NM_001407598.1:c.3858_3861del |
| BRCA1 transcript variant 200 | NM_001407933.1:c.3592_3597= | NM_001407933.1:c.3594_3597del |
| BRCA1 transcript variant 194 | NM_001407927.1:c.3592_3597= | NM_001407927.1:c.3594_3597del |
| BRCA1 transcript variant 56 | NM_001407645.1:c.3853_3858= | NM_001407645.1:c.3855_3858del |
| BRCA1 transcript variant 38 | NM_001407626.1:c.3856_3861= | NM_001407626.1:c.3858_3861del |
| BRCA1 transcript variant 29 | NM_001407617.1:c.3856_3861= | NM_001407617.1:c.3858_3861del |
| BRCA1 transcript variant 26 | NM_001407614.1:c.3853_3858= | NM_001407614.1:c.3855_3858del |
| BRCA1 transcript variant 197 | NM_001407930.1:c.3589_3594= | NM_001407930.1:c.3591_3594del |
| BRCA1 transcript variant 188 | NM_001407921.1:c.3592_3597= | NM_001407921.1:c.3594_3597del |
| BRCA1 transcript variant 201 | NM_001407934.1:c.3589_3594= | NM_001407934.1:c.3591_3594del |
| BRCA1 transcript variant 57 | NM_001407646.1:c.3847_3852= | NM_001407646.1:c.3849_3852del |
| BRCA1 transcript variant 52 | NM_001407640.1:c.3856_3861= | NM_001407640.1:c.3858_3861del |
| BRCA1 transcript variant 47 | NM_001407635.1:c.3853_3858= | NM_001407635.1:c.3855_3858del |
| BRCA1 transcript variant 39 | NM_001407627.1:c.3853_3858= | NM_001407627.1:c.3855_3858del |
| BRCA1 transcript variant 19 | NM_001407602.1:c.3856_3861= | NM_001407602.1:c.3858_3861del |
| BRCA1 transcript variant 55 | NM_001407644.1:c.3853_3858= | NM_001407644.1:c.3855_3858del |
| BRCA1 transcript variant 34 | NM_001407622.1:c.3856_3861= | NM_001407622.1:c.3858_3861del |
| BRCA1 transcript variant 50 | NM_001407638.1:c.3853_3858= | NM_001407638.1:c.3855_3858del |
| BRCA1 transcript variant 43 | NM_001407631.1:c.3853_3858= | NM_001407631.1:c.3855_3858del |
| BRCA1 transcript variant 20 | NM_001407603.1:c.3856_3861= | NM_001407603.1:c.3858_3861del |
| BRCA1 transcript variant 58 | NM_001407647.1:c.3847_3852= | NM_001407647.1:c.3849_3852del |
| BRCA1 transcript variant 163 | NM_001407884.1:c.3646_3651= | NM_001407884.1:c.3648_3651del |
| BRCA1 transcript variant 30 | NM_001407618.1:c.3856_3861= | NM_001407618.1:c.3858_3861del |
| BRCA1 transcript variant 25 | NM_001407613.1:c.3853_3858= | NM_001407613.1:c.3855_3858del |
| BRCA1 transcript variant 181 | NM_001407910.1:c.3646_3651= | NM_001407910.1:c.3648_3651del |
| BRCA1 transcript variant 176 | NM_001407904.1:c.3646_3651= | NM_001407904.1:c.3648_3651del |
| BRCA1 transcript variant 169 | NM_001407895.1:c.3643_3648= | NM_001407895.1:c.3645_3648del |
| BRCA1 transcript variant 44 | NM_001407632.1:c.3853_3858= | NM_001407632.1:c.3855_3858del |
| BRCA1 transcript variant 183 | NM_001407916.1:c.3643_3648= | NM_001407916.1:c.3645_3648del |
| BRCA1 transcript variant 182 | NM_001407915.1:c.3643_3648= | NM_001407915.1:c.3645_3648del |
| BRCA1 transcript variant 166 | NM_001407887.1:c.3646_3651= | NM_001407887.1:c.3648_3651del |
| BRCA1 transcript variant 221 | NM_001407954.1:c.3520_3525= | NM_001407954.1:c.3522_3525del |
| BRCA1 transcript variant 180 | NM_001407909.1:c.3646_3651= | NM_001407909.1:c.3648_3651del |
| BRCA1 transcript variant 177 | NM_001407906.1:c.3646_3651= | NM_001407906.1:c.3648_3651del |
| BRCA1 transcript variant 168 | NM_001407894.1:c.3643_3648= | NM_001407894.1:c.3645_3648del |
| BRCA1 transcript variant 185 | NM_001407918.1:c.3643_3648= | NM_001407918.1:c.3645_3648del |
| BRCA1 transcript variant 75 | NM_001407666.1:c.3733_3738= | NM_001407666.1:c.3735_3738del |
| BRCA1 transcript variant 170 | NM_001407896.1:c.3643_3648= | NM_001407896.1:c.3645_3648del |
| BRCA1 transcript variant 87 | NM_001407678.1:c.3733_3738= | NM_001407678.1:c.3735_3738del |
| BRCA1 transcript variant 81 | NM_001407672.1:c.3730_3735= | NM_001407672.1:c.3732_3735del |
| BRCA1 transcript variant 173 | NM_001407899.1:c.3643_3648= | NM_001407899.1:c.3645_3648del |
| BRCA1 transcript variant 165 | NM_001407886.1:c.3646_3651= | NM_001407886.1:c.3648_3651del |
| BRCA1 transcript variant 106 | NM_001407698.1:c.3715_3720= | NM_001407698.1:c.3717_3720del |
| BRCA1 transcript variant 215 | NM_001407948.1:c.3523_3528= | NM_001407948.1:c.3525_3528del |
| BRCA1 transcript variant 133 | NM_001407750.1:c.3715_3720= | NM_001407750.1:c.3717_3720del |
| BRCA1 transcript variant 127 | NM_001407744.1:c.3712_3717= | NM_001407744.1:c.3714_3717del |
| BRCA1 transcript variant 115 | NM_001407732.1:c.3715_3720= | NM_001407732.1:c.3717_3720del |
| BRCA1 transcript variant 59 | NM_001407648.1:c.3733_3738= | NM_001407648.1:c.3735_3738del |
| BRCA1 transcript variant 217 | NM_001407950.1:c.3523_3528= | NM_001407950.1:c.3525_3528del |
| BRCA1 transcript variant 149 | NM_001407852.1:c.3715_3720= | NM_001407852.1:c.3717_3720del |
| BRCA1 transcript variant 146 | NM_001407849.1:c.3712_3717= | NM_001407849.1:c.3714_3717del |
| BRCA1 transcript variant 142 | NM_001407845.1:c.3712_3717= | NM_001407845.1:c.3714_3717del |
| BRCA1 transcript variant 125 | NM_001407742.1:c.3712_3717= | NM_001407742.1:c.3714_3717del |
| BRCA1 transcript variant 119 | NM_001407736.1:c.3715_3720= | NM_001407736.1:c.3717_3720del |
| BRCA1 transcript variant 60 | NM_001407649.1:c.3730_3735= | NM_001407649.1:c.3732_3735del |
| BRCA1 transcript variant 219 | NM_001407952.1:c.3523_3528= | NM_001407952.1:c.3525_3528del |
| BRCA1 transcript variant 121 | NM_001407738.1:c.3715_3720= | NM_001407738.1:c.3717_3720del |
| BRCA1 transcript variant 154 | NM_001407860.1:c.3853_3858= | NM_001407860.1:c.3855_3858del |
| BRCA1 transcript variant 152 | NM_001407858.1:c.3856_3861= | NM_001407858.1:c.3858_3861del |
| BRCA1 transcript variant 62 | NM_001407653.1:c.3778_3783= | NM_001407653.1:c.3780_3783del |
| BRCA1 transcript variant 151 | NM_001407854.1:c.3856_3861= | NM_001407854.1:c.3858_3861del |
| BRCA1 transcript variant 67 | NM_001407658.1:c.3778_3783= | NM_001407658.1:c.3780_3783del |
| BRCA1 transcript variant 161 | NM_001407881.1:c.3646_3651= | NM_001407881.1:c.3648_3651del |
| BRCA1 transcript variant 72 | NM_001407663.1:c.3778_3783= | NM_001407663.1:c.3780_3783del |
| BRCA1 transcript variant 70 | NM_001407661.1:c.3775_3780= | NM_001407661.1:c.3777_3780del |
| BRCA1 transcript variant 69 | NM_001407660.1:c.3775_3780= | NM_001407660.1:c.3777_3780del |
| BRCA1 transcript variant 63 | NM_001407654.1:c.3778_3783= | NM_001407654.1:c.3780_3783del |
| BRCA1 transcript variant 61 | NM_001407652.1:c.3856_3861= | NM_001407652.1:c.3858_3861del |
| BRCA1 transcript variant 172 | NM_001407898.1:c.3643_3648= | NM_001407898.1:c.3645_3648del |
| BRCA1 transcript variant 155 | NM_001407861.1:c.3853_3858= | NM_001407861.1:c.3855_3858del |
| BRCA1 transcript variant 66 | NM_001407657.1:c.3778_3783= | NM_001407657.1:c.3780_3783del |
| BRCA1 transcript variant 65 | NM_001407656.1:c.3778_3783= | NM_001407656.1:c.3780_3783del |
| BRCA1 transcript variant 231 | NM_001407965.1:c.3352_3357= | NM_001407965.1:c.3354_3357del |
| BRCA1 transcript variant 71 | NM_001407662.1:c.3775_3780= | NM_001407662.1:c.3777_3780del |
| BRCA1 transcript variant 68 | NM_001407659.1:c.3775_3780= | NM_001407659.1:c.3777_3780del |
| BRCA1 transcript variant 112 | NM_001407729.1:c.3715_3720= | NM_001407729.1:c.3717_3720del |
| BRCA1 transcript variant 126 | NM_001407743.1:c.3712_3717= | NM_001407743.1:c.3714_3717del |
| BRCA1 transcript variant 118 | NM_001407735.1:c.3715_3720= | NM_001407735.1:c.3717_3720del |
| BRCA1 transcript variant 148 | NM_001407851.1:c.3715_3720= | NM_001407851.1:c.3717_3720del |
| BRCA1 transcript variant 141 | NM_001407844.1:c.3712_3717= | NM_001407844.1:c.3714_3717del |
| BRCA1 transcript variant 111 | NM_001407728.1:c.3715_3720= | NM_001407728.1:c.3717_3720del |
| BRCA1 transcript variant 128 | NM_001407745.1:c.3712_3717= | NM_001407745.1:c.3714_3717del |
| BRCA1 transcript variant 120 | NM_001407737.1:c.3715_3720= | NM_001407737.1:c.3717_3720del |
| BRCA1 transcript variant 145 | NM_001407848.1:c.3712_3717= | NM_001407848.1:c.3714_3717del |
| BRCA1 transcript variant 137 | NM_001407839.1:c.3712_3717= | NM_001407839.1:c.3714_3717del |
| BRCA1 transcript variant 158 | NM_001407874.1:c.3652_3657= | NM_001407874.1:c.3654_3657del |
| BRCA1 transcript variant 73 | NM_001407664.1:c.3733_3738= | NM_001407664.1:c.3735_3738del |
| BRCA1 transcript variant 89 | NM_001407680.1:c.3733_3738= | NM_001407680.1:c.3735_3738del |
| BRCA1 transcript variant 84 | NM_001407675.1:c.3733_3738= | NM_001407675.1:c.3735_3738del |
| BRCA1 transcript variant 79 | NM_001407670.1:c.3730_3735= | NM_001407670.1:c.3732_3735del |
| BRCA1 transcript variant 164 | NM_001407885.1:c.3646_3651= | NM_001407885.1:c.3648_3651del |
| BRCA1 transcript variant 98 | NM_001407689.1:c.3730_3735= | NM_001407689.1:c.3732_3735del |
| BRCA1 transcript variant 90 | NM_001407681.1:c.3733_3738= | NM_001407681.1:c.3735_3738del |
| BRCA1 transcript variant 76 | NM_001407667.1:c.3733_3738= | NM_001407667.1:c.3735_3738del |
| BRCA1 transcript variant 88 | NM_001407679.1:c.3733_3738= | NM_001407679.1:c.3735_3738del |
| BRCA1 transcript variant 85 | NM_001407676.1:c.3733_3738= | NM_001407676.1:c.3735_3738del |
| BRCA1 transcript variant 80 | NM_001407671.1:c.3730_3735= | NM_001407671.1:c.3732_3735del |
| BRCA1 transcript variant 97 | NM_001407688.1:c.3730_3735= | NM_001407688.1:c.3732_3735del |
| BRCA1 transcript variant 94 | NM_001407685.1:c.3730_3735= | NM_001407685.1:c.3732_3735del |
| BRCA1 transcript variant 91 | NM_001407682.1:c.3733_3738= | NM_001407682.1:c.3735_3738del |
| BRCA1 transcript variant 77 | NM_001407668.1:c.3733_3738= | NM_001407668.1:c.3735_3738del |
| BRCA1 transcript variant 212 | NM_001407945.1:c.3715_3720= | NM_001407945.1:c.3717_3720del |
| BRCA1 transcript variant 100 | NM_001407691.1:c.3730_3735= | NM_001407691.1:c.3732_3735del |
| BRCA1 transcript variant 74 | NM_001407665.1:c.3733_3738= | NM_001407665.1:c.3735_3738del |
| BRCA1 transcript variant 213 | NM_001407946.1:c.3523_3528= | NM_001407946.1:c.3525_3528del |
| BRCA1 transcript variant 222 | NM_001407955.1:c.3520_3525= | NM_001407955.1:c.3522_3525del |
| BRCA1 transcript variant 218 | NM_001407951.1:c.3523_3528= | NM_001407951.1:c.3525_3528del |
| BRCA1 transcript variant 95 | NM_001407686.1:c.3730_3735= | NM_001407686.1:c.3732_3735del |
| BRCA1 transcript variant 225 | NM_001407958.1:c.3520_3525= | NM_001407958.1:c.3522_3525del |
| BRCA1 transcript variant 216 | NM_001407949.1:c.3523_3528= | NM_001407949.1:c.3525_3528del |
| BRCA1 transcript variant 101 | NM_001407692.1:c.3715_3720= | NM_001407692.1:c.3717_3720del |
| BRCA1 transcript variant 220 | NM_001407953.1:c.3523_3528= | NM_001407953.1:c.3525_3528del |
| BRCA1 transcript variant 224 | NM_001407957.1:c.3523_3528= | NM_001407957.1:c.3525_3528del |
| BRCA1 transcript variant 130 | NM_001407747.1:c.3712_3717= | NM_001407747.1:c.3714_3717del |
| BRCA1 transcript variant 191 | NM_001407924.1:c.3592_3597= | NM_001407924.1:c.3594_3597del |
| BRCA1 transcript variant 227 | NM_001407960.1:c.3475_3480= | NM_001407960.1:c.3477_3480del |
| BRCA1 transcript variant 196 | NM_001407929.1:c.3592_3597= | NM_001407929.1:c.3594_3597del |
| BRCA1 transcript variant 203 | NM_001407936.1:c.3589_3594= | NM_001407936.1:c.3591_3594del |
| BRCA1 transcript variant 192 | NM_001407925.1:c.3592_3597= | NM_001407925.1:c.3594_3597del |
| BRCA1 transcript variant 228 | NM_001407962.1:c.3472_3477= | NM_001407962.1:c.3474_3477del |
| BRCA1 transcript variant 199 | NM_001407932.1:c.3589_3594= | NM_001407932.1:c.3591_3594del |
| BRCA1 transcript variant 195 | NM_001407928.1:c.3592_3597= | NM_001407928.1:c.3594_3597del |
| BRCA1 transcript variant 156 | NM_001407862.1:c.3655_3660= | NM_001407862.1:c.3657_3660del |
| BRCA1 transcript variant 205 | NM_001407938.1:c.3733_3738= | NM_001407938.1:c.3735_3738del |
| BRCA1 transcript variant 207 | NM_001407940.1:c.3730_3735= | NM_001407940.1:c.3732_3735del |
| BRCA1 transcript variant 157 | NM_001407863.1:c.3733_3738= | NM_001407863.1:c.3735_3738del |
| BRCA1 transcript variant 159 | NM_001407875.1:c.3652_3657= | NM_001407875.1:c.3654_3657del |
| BRCA1 transcript variant 193 | NM_001407926.1:c.3592_3597= | NM_001407926.1:c.3594_3597del |
| BRCA1 transcript variant 202 | NM_001407935.1:c.3592_3597= | NM_001407935.1:c.3594_3597del |
| BRCA1 transcript variant 189 | NM_001407922.1:c.3592_3597= | NM_001407922.1:c.3594_3597del |
| BRCA1 transcript variant 229 | NM_001407963.1:c.3475_3480= | NM_001407963.1:c.3477_3480del |
| BRCA1 transcript variant 226 | NM_001407959.1:c.3475_3480= | NM_001407959.1:c.3477_3480del |
| BRCA1 transcript variant 198 | NM_001407931.1:c.3589_3594= | NM_001407931.1:c.3591_3594del |
| BRCA1 transcript variant 230 | NM_001407964.1:c.3712_3717= | NM_001407964.1:c.3714_3717del |
| BRCA1 transcript variant 232 | NM_001407966.1:c.2968_2973= | NM_001407966.1:c.2970_2973del |
| BRCA1 transcript variant 233 | NM_001407967.1:c.2968_2973= | NM_001407967.1:c.2970_2973del |
| BRCA1 transcript variant 234 | NM_001407968.1:c.1252_1257= | NM_001407968.1:c.1254_1257del |
| BRCA1 transcript variant 235 | NM_001407969.1:c.1252_1257= | NM_001407969.1:c.1254_1257del |
| BRCA1 transcript variant BRCA1b | NM_007295.2:c.3856_3861= | NM_007295.2:c.3858_3861del |
| BRCA1 transcript variant BRCA1-exon4 | NM_007306.2:c.*3792_*3797= | NM_007306.2:c.*3794_*3797del |
| BRCA1 transcript variant BRCA1a' | NM_007296.2:c.3856_3861= | NM_007296.2:c.3858_3861del |
| BRCA1 transcript variant 6 | NR_027676.2:n.4033_4038= | NR_027676.2:n.4035_4038del |
| BRCA1 transcript variant BRCA1-delta9-10 | NM_007302.2:c.3733_3738= | NM_007302.2:c.3735_3738del |
| BRCA1 transcript variant BRCA1-delta15-17 | NM_007301.2:c.3856_3861= | NM_007301.2:c.3858_3861del |
| BRCA1 transcript variant BRCA1b | NM_007295.1:c.3856_3861= | NM_007295.1:c.3858_3861del |
| BRCA1 transcript variant BRCA1-exon4 | NM_007306.1:c.*3792_*3797= | NM_007306.1:c.*3794_*3797del |
| BRCA1 transcript variant 6 | NR_027676.1:n.3992_3997= | NR_027676.1:n.3994_3997del |
| BRCA1 transcript variant BRCA1a' | NM_007296.1:c.3856_3861= | NM_007296.1:c.3858_3861del |
| BRCA1 transcript variant BRCA1-delta9-10 | NM_007302.1:c.3733_3738= | NM_007302.1:c.3735_3738del |
| BRCA1 transcript variant BRCA1-delta15-17 | NM_007301.1:c.3856_3861= | NM_007301.1:c.3858_3861del |
| breast cancer type 1 susceptibility protein isoform 2 | NP_009231.2:p.Ser1286_Glu1287= | NP_009231.2:p.Ser1286fs |
| breast cancer type 1 susceptibility protein isoform 1 | NP_009225.1:p.Ser1286_Glu1287= | NP_009225.1:p.Ser1286fs |
| breast cancer type 1 susceptibility protein isoform 3 | NP_009228.2:p.Ser1239_Glu1240= | NP_009228.2:p.Ser1239fs |
| BRCA1 transcript variant 4 | NM_007298.3:c.788-638= | NM_007298.3:c.788-641_788-638del |
| BRCA1 transcript variant 5 | NM_007299.3:c.788-638= | NM_007299.3:c.788-641_788-638del |
| BRCA1 transcript variant 5 | NM_007299.4:c.788-638= | NM_007299.4:c.788-641_788-638del |
Help
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#.
5 SubSNP,
3 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | BIC_BRODY | ss187450534 | May 08, 2010 (132) |
| 2 | BIC_BRODY | ss187450782 | May 08, 2010 (136) |
| 3 | GNOMAD | ss2742751645 | Nov 08, 2017 (151) |
| 4 | SANMINGWANGLAB | ss3783301367 | Jul 13, 2019 (153) |
| 5 | TOPMED | ss5036139929 | Apr 27, 2021 (155) |
| 6 | gnomAD - Exomes | NC_000017.10 - 41243687 | Jul 13, 2019 (153) |
| 7 | TopMed | NC_000017.11 - 43091670 | Apr 27, 2021 (155) |
| 8 | ALFA | NC_000017.11 - 43091670 | Apr 27, 2021 (155) |
| 9 | ClinVar | RCV000031134.10 | Oct 17, 2022 (156) |
| 10 | ClinVar | RCV000048359.11 | Oct 17, 2022 (156) |
| 11 | ClinVar | RCV000508686.4 | Oct 17, 2022 (156) |
| 12 | ClinVar | RCV000509638.5 | Oct 17, 2022 (156) |
Help
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) |
|---|---|
| rs80357889 | May 11, 2017 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 12056766, ss2742751645 | NC_000017.10:41243686:CTCA: | NC_000017.11:43091669:CTCACT:CT | (self) |
| ss3783301367 | NC_000017.10:41243687:TCAC: | NC_000017.11:43091669:CTCACT:CT | (self) |
| 251685591, ss187450782, ss5036139929 | NC_000017.11:43091669:CTCA: | NC_000017.11:43091669:CTCACT:CT | (self) |
| RCV000031134.10, RCV000048359.11, RCV000508686.4, RCV000509638.5, 5612697418 | NC_000017.11:43091669:CTCACT:CT | NC_000017.11:43091669:CTCACT:CT | (self) |
| ss187450534 | NC_000017.11:43091671:CACT: | NC_000017.11:43091669:CTCACT:CT | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
4
citations for rs80357842
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 10874312 | Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations. | Khoo US et al. | 2000 | Human mutation |
| 18006916 | BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy. | Ang P et al. | 2007 | Cancer epidemiology, biomarkers & prevention |
| 20859677 | Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. | Gonzalez-Hormazabal P et al. | 2011 | Breast cancer research and treatment |
| 26187060 | Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. | Kwong A et al. | 2016 | Journal of medical genetics |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
Top▲
Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.