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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.

rs770494089

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:140808968 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/251086, GnomAD_exome)
A=0.000008 (1/121234, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BRAF : Stop Gained
Publications
0 citations
Genomic View
See rs on genome
Help

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
gnomAD - Exomes Global Study-wide 251086 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135074 G=0.999993 A=0.000007
gnomAD - Exomes Asian Sub 49002 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34568 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16250 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10072 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6120 G=1.0000 A=0.0000
ExAC Global Study-wide 121234 G=0.999992 A=0.000008
ExAC Europe Sub 73276 G=0.99999 A=0.00001
ExAC Asian Sub 25146 G=1.00000 A=0.00000
ExAC American Sub 11524 G=1.00000 A=0.00000
ExAC African Sub 10382 G=1.00000 A=0.00000
ExAC Other Sub 906 G=1.000 A=0.000
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 7 NC_000007.14:g.140808968G>A
GRCh37.p13 chr 7 NC_000007.13:g.140508768G>A
BRAF RefSeqGene (LRG_299) NG_007873.3:g.120797C>T
Gene: BRAF, B-Raf proto-oncogene, serine/threonine kinase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRAF transcript variant 1 NM_004333.6:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 1 NP_004324.2:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 2 NM_001354609.2:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 2 NP_001341538.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 4 NM_001374244.1:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 3 NP_001361173.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 5 NM_001374258.1:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 4 NP_001361187.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 11 NM_001378472.1:c.376C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 10 NP_001365401.1:p.Arg126Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 6 NM_001378467.1:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 5 NP_001365396.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 8 NM_001378469.1:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 7 NP_001365398.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 7 NM_001378468.1:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 6 NP_001365397.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 9 NM_001378470.1:c.430C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 8 NP_001365399.1:p.Arg144Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 14 NM_001378475.1:c.268C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 13 NP_001365404.1:p.Arg90Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 10 NM_001378471.1:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 9 NP_001365400.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 12 NM_001378473.1:c.376C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 11 NP_001365402.1:p.Arg126Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant 13 NM_001378474.1:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 12 NP_001365403.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant X6 XM_047420770.1:c.-383= N/A 5 Prime UTR Variant
BRAF transcript variant X1 XM_017012559.2:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X1 XP_016868048.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant X2 XM_047420766.1:c.376C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X2 XP_047276722.1:p.Arg126Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant X3 XM_047420767.1:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X3 XP_047276723.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant X4 XM_047420768.1:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X4 XP_047276724.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
BRAF transcript variant X5 XM_047420769.1:c.532C>T R [CGA] > * [TGA] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X5 XP_047276725.1:p.Arg178Ter R (Arg) > * (Ter) Stop Gained
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.

Not Reported in ClinVar
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 G= A
GRCh38.p14 chr 7 NC_000007.14:g.140808968= NC_000007.14:g.140808968G>A
GRCh37.p13 chr 7 NC_000007.13:g.140508768= NC_000007.13:g.140508768G>A
BRAF RefSeqGene (LRG_299) NG_007873.3:g.120797= NG_007873.3:g.120797C>T
BRAF transcript variant 1 NM_004333.6:c.532= NM_004333.6:c.532C>T
BRAF transcript variant 1 NM_004333.5:c.532= NM_004333.5:c.532C>T
BRAF transcript NM_004333.4:c.532= NM_004333.4:c.532C>T
BRAF transcript variant 2 NM_001354609.2:c.532= NM_001354609.2:c.532C>T
BRAF transcript variant 2 NM_001354609.1:c.532= NM_001354609.1:c.532C>T
BRAF transcript variant 5 NM_001374258.1:c.532= NM_001374258.1:c.532C>T
BRAF transcript variant 6 NM_001378467.1:c.532= NM_001378467.1:c.532C>T
BRAF transcript variant 9 NM_001378470.1:c.430= NM_001378470.1:c.430C>T
BRAF transcript variant 10 NM_001378471.1:c.532= NM_001378471.1:c.532C>T
BRAF transcript variant 7 NM_001378468.1:c.532= NM_001378468.1:c.532C>T
BRAF transcript variant 14 NM_001378475.1:c.268= NM_001378475.1:c.268C>T
BRAF transcript variant 11 NM_001378472.1:c.376= NM_001378472.1:c.376C>T
BRAF transcript variant 4 NM_001374244.1:c.532= NM_001374244.1:c.532C>T
BRAF transcript variant 8 NM_001378469.1:c.532= NM_001378469.1:c.532C>T
BRAF transcript variant 12 NM_001378473.1:c.376= NM_001378473.1:c.376C>T
BRAF transcript variant X1 XM_017012559.2:c.532= XM_017012559.2:c.532C>T
BRAF transcript variant X2 XM_017012559.1:c.532= XM_017012559.1:c.532C>T
BRAF transcript variant 3 NR_148928.2:n.758= NR_148928.2:n.758C>T
BRAF transcript variant X2 XM_047420766.1:c.376= XM_047420766.1:c.376C>T
BRAF transcript variant X6 XM_047420770.1:c.-383= XM_047420770.1:c.-383C>T
BRAF transcript variant 3 NR_148928.1:n.757= NR_148928.1:n.757C>T
BRAF transcript variant 13 NM_001378474.1:c.532= NM_001378474.1:c.532C>T
BRAF transcript variant X3 XM_047420767.1:c.532= XM_047420767.1:c.532C>T
BRAF transcript variant X4 XM_047420768.1:c.532= XM_047420768.1:c.532C>T
BRAF transcript variant X5 XM_047420769.1:c.532= XM_047420769.1:c.532C>T
serine/threonine-protein kinase B-raf isoform 1 NP_004324.2:p.Arg178= NP_004324.2:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform 2 NP_001341538.1:p.Arg178= NP_001341538.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform 4 NP_001361187.1:p.Arg178= NP_001361187.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform 5 NP_001365396.1:p.Arg178= NP_001365396.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform 8 NP_001365399.1:p.Arg144= NP_001365399.1:p.Arg144Ter
serine/threonine-protein kinase B-raf isoform 9 NP_001365400.1:p.Arg178= NP_001365400.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform 6 NP_001365397.1:p.Arg178= NP_001365397.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform 13 NP_001365404.1:p.Arg90= NP_001365404.1:p.Arg90Ter
serine/threonine-protein kinase B-raf isoform 10 NP_001365401.1:p.Arg126= NP_001365401.1:p.Arg126Ter
serine/threonine-protein kinase B-raf isoform 3 NP_001361173.1:p.Arg178= NP_001361173.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform 7 NP_001365398.1:p.Arg178= NP_001365398.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform 11 NP_001365402.1:p.Arg126= NP_001365402.1:p.Arg126Ter
serine/threonine-protein kinase B-raf isoform X1 XP_016868048.1:p.Arg178= XP_016868048.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform X2 XP_047276722.1:p.Arg126= XP_047276722.1:p.Arg126Ter
serine/threonine-protein kinase B-raf isoform 12 NP_001365403.1:p.Arg178= NP_001365403.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform X3 XP_047276723.1:p.Arg178= XP_047276723.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform X4 XP_047276724.1:p.Arg178= XP_047276724.1:p.Arg178Ter
serine/threonine-protein kinase B-raf isoform X5 XP_047276725.1:p.Arg178= XP_047276725.1:p.Arg178Ter
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#.

3 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1688979334 Apr 01, 2015 (144)
2 GNOMAD ss2736818583 Nov 08, 2017 (151)
3 EVA ss5935904875 Oct 14, 2022 (156)
4 ExAC NC_000007.13 - 140508768 Oct 12, 2018 (152)
5 gnomAD - Exomes NC_000007.13 - 140508768 Jul 13, 2019 (153)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9064176, 5983994, ss1688979334, ss2736818583, ss5935904875 NC_000007.13:140508767:G:A NC_000007.14:140808967:G:A (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 rs770494089

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.

Software version is: 2.0.1.post761+d5e8e07