chr17:29556373:C>T Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,556,373-29,556,373
hg38 chr17:31,229,355-31,229,355 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.2740C>T NP_000258.1:p.Arg914Trp
NM_001042492.2:c.2740C>T NP_001035957.1:p.Arg914Trp
Ensemble ENST00000356175.7:c.2740C>T ENST00000356175.7:p.Arg914Trp
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
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 COSM4065324 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Uncertain significance 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-02-01 criteria provided, single submitter Neurofibromatosis, type 1 germline Detail
Uncertain significance 2020-01-10 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2022-03-14 criteria provided, single submitter neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal,juvenile myelomonocytic leukemia unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal,juvenile myelomonocytic leukemia unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal,juvenile myelomonocytic leukemia unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal,juvenile myelomonocytic leukemia unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal,juvenile myelomonocytic leukemia unknown Detail
Uncertain significance 2023-04-26 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) AND not provided ClinVar 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
rs765848298 dbSNP
Genome
hg19
Position
chr17:29,556,373-29,556,373
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121314
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.243071698237632E-6
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