chr17:29553492:C>T Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,553,492-29,553,492
hg38 chr17:31,226,474-31,226,474 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.2041C>T NP_000258.1:p.Arg681Ter
NM_001042492.2:c.2041C>T NP_001035957.1:p.Arg681Ter
Ensemble ENST00000356175.7:c.2041C>T ENST00000356175.7:p.Arg681Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 5
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 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 COSM41805 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000073
(TMGS000155) 		Kenjiro Kosaki
 Keio University
IRUD
Pathogenic other germline MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
Pathogenic 2020/04/20 fundus of stomach 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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-26 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 de novo germline maternal Detail
Pathogenic 2022-05-25 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2015-10-22 criteria provided, single submitter unknown Detail
Pathogenic 2019-03-28 criteria provided, single submitter not specified germline Detail
Pathogenic 2020-09-01 no assertion criteria provided rhabdomyosarcoma germline Detail
Pathogenic 2021-10-02 criteria provided, single submitter neurofibromatosis-Noonan syndrome unknown Detail
Pathogenic 2022-02-08 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) AND not specified ClinVar Detail
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) AND Rhabdomyosarcoma ClinVar Detail
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) AND Neurofibromatosis-Noonan syndrome ClinVar Detail
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) AND multiple conditions ClinVar Detail
NA 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
rs768638173 dbSNP
Genome
hg19
Position
chr17:29,553,492-29,553,492
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8628
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)
121150
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)
8.254230293025175E-6
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