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Variant : CV363412 (NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)) Homo sapiens

Symbol: CV363412
Name: NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)
Condition: Acute myeloid leukemia [RCV000436411]|Chronic lymphocytic leukemia [RCV000423295]|Medulloblastoma [RCV000444087]|Myelodysplastic syndrome [RCV000424642]|Neoplasm of the breast [RCV000433609]|Pancreatic adenocarcinoma [RCV000425258]|Renal cell carcinoma, papillary, 1 [RCV000444245]
Clinical Significance: likely pathogenic
Last Evaluated: 05/31/2016
Review Status: no assertion criteria provided
Related Genes: SF3B2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NC_000011.10:g.66063413A>G
NC_000011.9:g.65830884A>G
NP_006833.2:p.Glu700Gly
NM_006842.3:c.2099A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381166,063,413 - 66,063,413CLINVAR
GRCh371165,830,884 - 65,830,884CLINVAR
Cytogenetic Map1111q13.1CLINVAR
Trait Synonyms: Acute granulocytic leukemia; Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; AML adult; B-cell chronic lymphocytic leukemia; Breast cancer; Breast tumor; Chronic lymphatic leukemia; Hypernephroma; Kidney cancer; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic; Leukemia, B-cell, chronic; Medulloblastoma, somatic; Myelodysplastic syndrome, somatic; MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO; Neoplasia of the breast; Neoplasm of breast; Renal adenocarcinoma; Renal carcinoma; Renal cell cancer; Renal cell carcinoma; Renal cell carcinoma 1; RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC; Renal cell carcinoma, somatic; Tumours of the breast
Age Of Onset: adult|all ages
Prevalence: 1-5 / 10 000|1-9 / 1 000 000|1-9 / 100 000|20-30% her2-positive cases for metastatic carcinomas, and only 11% of the screen-detected breast carcinomas displayed her2/neu gene amplification.



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12836382
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-09-29
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.