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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs587782286

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr17:58703275-58703278 (GRCh38.p7) 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
delAG
Variation Type
Indel Insertion and Deletion
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
RAD51C : Frameshift
Publications
0 citations
Genomic View
See rs on genome
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.p7 chr 17 NC_000017.11:g.58703275_58703276[1]
GRCh37.p13 chr 17 NC_000017.10:g.56780636_56780637[1]
RAD51C RefSeqGene (LRG_314) NG_023199.1:g.15674_15675[1]
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: delAG (allele ID: 185158 )
ClinVar Accession Disease Names Clinical Significance
RCV000166223.2 Hereditary cancer-predisposing syndrome Pathogenic
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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").

None
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 AGAG= delAG Note
GRCh38.p7 chr 17 NC_000017.11:g.58703275...

NC_000017.11:g.58703275_58703278AGAG=

NC_000017.11:g.58703275...

NC_000017.11:g.58703275_58703276[1]

GRCh37.p13 chr 17 NC_000017.10:g.56780636...

NC_000017.10:g.56780636_56780639AGAG=

NC_000017.10:g.56780636...

NC_000017.10:g.56780636_56780637[1]

RAD51C RefSeqGene (LRG_314) NG_023199.1:g.15674_156...

NG_023199.1:g.15674_15677AGAG=

NG_023199.1:g.15674_156...

NG_023199.1:g.15674_15675[1]

RAD51C transcript variant 1 NM_058216.2:c.651_654AGAG= NM_058216.2:c.651_652[1]
RAD51C transcript variant 3 NR_103872.1:n.555_558AGAG= NR_103872.1:n.555_556[1]
RAD51C transcript variant X1 XM_006722001.3:c.651_65...

XM_006722001.3:c.651_654AGAG=

XM_006722001.3:c.651_65...

XM_006722001.3:c.651_652[1]

RAD51C transcript variant X2 XM_006722002.3:c.651_65...

XM_006722002.3:c.651_654AGAG=

XM_006722002.3:c.651_65...

XM_006722002.3:c.651_652[1]

RAD51C transcript variant X3 XM_006722004.3:c.300_30...

XM_006722004.3:c.300_303AGAG=

XM_006722004.3:c.300_30...

XM_006722004.3:c.300_301[1]

RAD51C transcript variant X5 XM_006722005.3:c.300_30...

XM_006722005.3:c.300_303AGAG=

XM_006722005.3:c.300_30...

XM_006722005.3:c.300_301[1]

RAD51C transcript variant X4 XM_011525093.2:c.300_30...

XM_011525093.2:c.300_303AGAG=

XM_011525093.2:c.300_30...

XM_011525093.2:c.300_301[1]

RAD51C transcript variant X13 XR_934513.2:n.693_696AGAG= XR_934513.2:n.693_694[1]
RAD51C transcript variant X6 XM_011525092.2:c.300_30...

XM_011525092.2:c.300_303AGAG=

XM_011525092.2:c.300_30...

XM_011525092.2:c.300_301[1]

RAD51C transcript variant X14 XR_934514.2:n.693_696AGAG= XR_934514.2:n.693_694[1]
RAD51C transcript variant X7 XM_011525094.2:c.300_30...

XM_011525094.2:c.300_303AGAG=

XM_011525094.2:c.300_30...

XM_011525094.2:c.300_301[1]

RAD51C transcript variant X10 XM_017024915.1:c.300_30...

XM_017024915.1:c.300_303AGAG=

XM_017024915.1:c.300_30...

XM_017024915.1:c.300_301[1]

RAD51C transcript variant X15 XM_017024919.1:c.300_30...

XM_017024919.1:c.300_303AGAG=

XM_017024919.1:c.300_30...

XM_017024919.1:c.300_301[1]

RAD51C transcript variant X11 XM_017024916.1:c.300_30...

XM_017024916.1:c.300_303AGAG=

XM_017024916.1:c.300_30...

XM_017024916.1:c.300_301[1]

RAD51C transcript variant X12 XM_017024918.1:c.300_30...

XM_017024918.1:c.300_303AGAG=

XM_017024918.1:c.300_30...

XM_017024918.1:c.300_301[1]

RAD51C transcript variant X8 XM_017024914.1:c.300_30...

XM_017024914.1:c.300_303AGAG=

XM_017024914.1:c.300_30...

XM_017024914.1:c.300_301[1]

RAD51C transcript variant X12 XM_017024917.1:c.300_30...

XM_017024917.1:c.300_303AGAG=

XM_017024917.1:c.300_30...

XM_017024917.1:c.300_301[1]

DNA repair protein RAD51 homolog 3 isoform 1 NP_478123.1:p.Thr217_Gl...

NP_478123.1:p.Thr217_Glu218=

NP_478123.1:p.Glu218fs
DNA repair protein RAD51 homolog 3 isoform X1 XP_006722064.1:p.Thr217...

XP_006722064.1:p.Thr217_Glu218=

XP_006722064.1:p.Glu218fs
DNA repair protein RAD51 homolog 3 isoform X2 XP_006722065.1:p.Thr217...

XP_006722065.1:p.Thr217_Glu218=

XP_006722065.1:p.Glu218fs
DNA repair protein RAD51 homolog 3 isoform X3 XP_006722067.1:p.Thr100...

XP_006722067.1:p.Thr100_Glu101=

XP_006722067.1:p.Glu101fs
DNA repair protein RAD51 homolog 3 isoform X3 XP_006722068.1:p.Thr100...

XP_006722068.1:p.Thr100_Glu101=

XP_006722068.1:p.Glu101fs
DNA repair protein RAD51 homolog 3 isoform X3 XP_011523395.1:p.Thr100...

XP_011523395.1:p.Thr100_Glu101=

XP_011523395.1:p.Glu101fs
DNA repair protein RAD51 homolog 3 isoform X3 XP_011523394.1:p.Thr100...

XP_011523394.1:p.Thr100_Glu101=

XP_011523394.1:p.Glu101fs
DNA repair protein RAD51 homolog 3 isoform X3 XP_011523396.1:p.Thr100...

XP_011523396.1:p.Thr100_Glu101=

XP_011523396.1:p.Glu101fs
DNA repair protein RAD51 homolog 3 isoform X4 XP_016880404.1:p.Thr100...

XP_016880404.1:p.Thr100_Glu101=

XP_016880404.1:p.Glu101fs
DNA repair protein RAD51 homolog 3 isoform X5 XP_016880408.1:p.Thr100...

XP_016880408.1:p.Thr100_Glu101=

XP_016880408.1:p.Glu101fs
DNA repair protein RAD51 homolog 3 isoform X4 XP_016880405.1:p.Thr100...

XP_016880405.1:p.Thr100_Glu101=

XP_016880405.1:p.Glu101fs
DNA repair protein RAD51 homolog 3 isoform X4 XP_016880407.1:p.Thr100...

XP_016880407.1:p.Thr100_Glu101=

XP_016880407.1:p.Glu101fs
DNA repair protein RAD51 homolog 3 isoform X4 XP_016880403.1:p.Thr100...

XP_016880403.1:p.Thr100_Glu101=

XP_016880403.1:p.Glu101fs
DNA repair protein RAD51 homolog 3 isoform X4 XP_016880406.1:p.Thr100...

XP_016880406.1:p.Thr100_Glu101=

XP_016880406.1:p.Glu101fs
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#.

1 ClinVar, 2 SubSNP submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss1457621035 Nov 23, 2014 (142)
2 CLINVAR ss1751111870 May 21, 2015 (136)
3 ClinVar RCV000166223.2 Jul 20, 2018 (151)
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)
rs786203081 May 11, 2017 (136)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss1457621035 NC_000017.11:58703274:delAG NC_000017.11:58703274:delAG (self)
RCV000166223.2, ss1751111870 NC_000017.11:58703276:delAG NC_000017.11:58703274:delAG (self)
Help

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

No publications for rs587782286

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.

Software version is: 0.1.4.post863+3a64c51