chr17:29661945:C>T Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,661,945-29,661,945
hg38 chr17:31,334,927-31,334,927 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.5839C>T NP_000258.1:p.Arg1947Ter
NM_001042492.2:c.5902C>T NP_001035957.1:p.Arg1968Ter
Ensemble ENST00000356175.7:c.5839C>T ENST00000356175.7:p.Arg1947Ter
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 9
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 613113 OMIM
HGNC 7765 HGNC
Ensembl ENSG00000196712 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM30766 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006)
Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided Ovarian cancer somatic MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
Pathogenic other germline MGS000001
(TMGS000137)
Kenjiro Kosaki Keio University
Pathogenic other germline MGS000073
(TMGS000145)
Kenjiro Kosaki
Keio University
IRUD
Pathogenic other germline MGS000073
(TMGS000155)
Kenjiro Kosaki
Keio University
IRUD
Pathogenic other germline MGS000001
(TMGS000162)
Kenjiro Kosaki Keio University
Pathogenic 2020/04/20 stomach, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 descending colon not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-29 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline inherited Detail
Pathogenic 2022-05-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2014-11-04 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2018-11-10 criteria provided, single submitter Neurofibromatosis, type 1 de novo Detail
Pathogenic 2021-09-03 criteria provided, single submitter juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2022-09-28 criteria provided, single submitter NF1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 NA CLINVAR Detail
<0.001 Neurofibromatosis type 5 Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmenta... BeFree 16117786 Detail
0.670 neurofibromatosis 1 Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmenta... BeFree 16117786 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND Juvenile myelomonocytic leukemia ClinVar Detail
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND NF1-related disorder ClinVar Detail
NA DisGeNET Detail
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis ... DisGeNET Detail
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs137854552 dbSNP
Genome
hg19
Position
chr17:29,661,945-29,661,945
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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