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dbSNP Short Genetic Variations

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.

rs267606706

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr11:119278181 (GRCh38.p12) 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=0.00001 (2/250954, GnomAD_exome)
C=0.00002 (2/118126, ExAC)
C=0.0000 (0/78698, PAGE_STUDY)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CBL : Missense Variant
Publications
4 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.p12 chr 11 NC_000011.10:g.119278181T>A
GRCh38.p12 chr 11 NC_000011.10:g.119278181T>C
GRCh37.p13 chr 11 NC_000011.9:g.119148891T>A
GRCh37.p13 chr 11 NC_000011.9:g.119148891T>C
CBL RefSeqGene (LRG_608) NG_016808.1:g.76902T>A
CBL RefSeqGene (LRG_608) NG_016808.1:g.76902T>C
Gene: CBL, Cbl proto-oncogene (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CBL transcript NM_005188.3:c.1111T>A Y [TAC] > N [AAC] Coding Sequence Variant
E3 ubiquitin-protein ligase CBL NP_005179.2:p.Tyr371Asn Y (Tyr) > N (Asn) Missense Variant
CBL transcript NM_005188.3:c.1111T>C Y [TAC] > H [CAC] Coding Sequence Variant
E3 ubiquitin-protein ligase CBL NP_005179.2:p.Tyr371His Y (Tyr) > H (His) Missense 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: A (allele ID: 179157 )
ClinVar Accession Disease Names Clinical Significance
RCV000506397.1 not specified Likely-Pathogenic
Allele: C (allele ID: 28850 )
ClinVar Accession Disease Names Clinical Significance
RCV000014822.25 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Pathogenic
RCV000437548.1 Hematologic neoplasm Likely-Pathogenic
RCV000441724.1 not provided Pathogenic
RCV000691502.1 Rasopathy Pathogenic
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").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 250954 T=0.99999 C=0.00001
gnomAD - Exomes European Sub 134980 T=0.99999 C=0.00001
gnomAD - Exomes Asian Sub 48992 T=1.0000 C=0.0000
gnomAD - Exomes American Sub 34552 T=1.0000 C=0.0000
gnomAD - Exomes African Sub 16242 T=0.9999 C=0.0001
gnomAD - Exomes Ashkenazi Jewish Sub 10072 T=1.0000 C=0.0000
gnomAD - Exomes Other Sub 6116 T=1.000 C=0.000
ExAC Global Study-wide 118126 T=0.99998 C=0.00002
ExAC Europe Sub 71020 T=1.0000 C=0.0000
ExAC Asian Sub 24744 T=1.0000 C=0.0000
ExAC American Sub 11352 T=1.0000 C=0.0000
ExAC African Sub 10116 T=0.9999 C=0.0001
ExAC Other Sub 894 T=1.00 C=0.00
The PAGE Study Global Study-wide 78698 T=1.0000 C=0.0000
The PAGE Study AfricanAmerican Sub 32516 T=1.0000 C=0.0000
The PAGE Study Mexican Sub 10806 T=1.0000 C=0.0000
The PAGE Study Asian Sub 8318 T=1.000 C=0.000
The PAGE Study PuertoRican Sub 7918 T=1.000 C=0.000
The PAGE Study NativeHawaiian Sub 4534 T=1.000 C=0.000
The PAGE Study Cuban Sub 4230 T=1.000 C=0.000
The PAGE Study Dominican Sub 3828 T=1.000 C=0.000
The PAGE Study CentralAmerican Sub 2450 T=1.000 C=0.000
The PAGE Study SouthAmerican Sub 1982 T=1.000 C=0.000
The PAGE Study NativeAmerican Sub 1260 T=1.000 C=0.000
The PAGE Study SouthAsian Sub 856 T=1.00 C=0.00
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 T= A C Note
GRCh38.p12 chr 11 NC_000011.10:g.11...

NC_000011.10:g.119278181=

NC_000011.10:g.11...

NC_000011.10:g.119278181T>A

NC_000011.10:g.11...

NC_000011.10:g.119278181T>C

GRCh37.p13 chr 11 NC_000011.9:g.119...

NC_000011.9:g.119148891=

NC_000011.9:g.119...

NC_000011.9:g.119148891T>A

NC_000011.9:g.119...

NC_000011.9:g.119148891T>C

CBL RefSeqGene (LRG_608) NG_016808.1:g.76902= NG_016808.1:g.769...

NG_016808.1:g.76902T>A

NG_016808.1:g.769...

NG_016808.1:g.76902T>C

CBL transcript NM_005188.3:c.1111= NM_005188.3:c.111...

NM_005188.3:c.1111T>A

NM_005188.3:c.111...

NM_005188.3:c.1111T>C

E3 ubiquitin-protein ligase CBL NP_005179.2:p.Tyr...

NP_005179.2:p.Tyr371=

NP_005179.2:p.Tyr...

NP_005179.2:p.Tyr371Asn

NP_005179.2:p.Tyr...

NP_005179.2:p.Tyr371His

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#.

17 SubSNP, 3 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NCBI-CURATED-RECORDS ss537713017 Jan 04, 2013 (137)
2 CLINVAR ss1584001346 Feb 26, 2015 (142)
3 EVA_EXAC ss1690671894 Apr 01, 2015 (144)
4 ILLUMINA ss1946324727 Feb 12, 2016 (147)
5 ILLUMINA ss1959391982 Feb 12, 2016 (147)
6 GNOMAD ss2739449875 Nov 08, 2017 (151)
7 GNOMAD ss2748757686 Nov 08, 2017 (151)
8 GNOMAD ss2905101589 Nov 08, 2017 (151)
9 AFFY ss2984959449 Nov 08, 2017 (151)
10 ILLUMINA ss3021382838 Nov 08, 2017 (151)
11 ILLUMINA ss3625610718 Oct 12, 2018 (152)
12 ILLUMINA ss3644577603 Oct 12, 2018 (152)
13 ILLUMINA ss3651751999 Oct 12, 2018 (152)
14 ILLUMINA ss3653731688 Oct 12, 2018 (152)
15 ILLUMINA ss3725282390 Jul 13, 2019 (153)
16 ILLUMINA ss3744091630 Jul 13, 2019 (153)
17 PAGE_CC ss3771657535 Jul 13, 2019 (153)
18 ExAC NC_000011.9 - 119148891 Oct 12, 2018 (152)
19 gnomAD - Exomes NC_000011.9 - 119148891 Jul 13, 2019 (153)
20 The PAGE Study NC_000011.10 - 119278181 Jul 13, 2019 (153)
21 ClinVar RCV000014822.25 Oct 12, 2018 (152)
22 ClinVar RCV000437548.1 Oct 12, 2018 (152)
23 ClinVar RCV000441724.1 Oct 12, 2018 (152)
24 ClinVar RCV000506397.1 Oct 12, 2018 (152)
25 ClinVar RCV000691502.1 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
RCV000506397.1, ss1584001346 NC_000011.10:119278180:T:A NC_000011.10:119278180:T:A (self)
950787, 8670308, ss1690671894, ss1946324727, ss1959391982, ss2739449875, ss2748757686, ss2905101589, ss2984959449, ss3021382838, ss3625610718, ss3644577603, ss3651751999, ss3653731688, ss3744091630 NC_000011.9:119148890:T:C NC_000011.10:119278180:T:C (self)
RCV000014822.25, RCV000437548.1, RCV000441724.1, RCV000691502.1, 879004, ss537713017, ss3725282390, ss3771657535 NC_000011.10:119278180:T:C NC_000011.10:119278180:T:C (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 rs267606706
PMID Title Author Year Journal
19571318 Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Loh ML et al. 2009 Blood
20543203 Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. PĂ©rez B et al. 2010 Journal of medical genetics
20694012 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Niemeyer CM et al. 2010 Nature genetics
23696637 CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN. Javadi M et al. 2013 The Journal of biological chemistry

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.post270+ab078da