chr17:31235728:C>T Detail (hg38) (NF1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:29,562,746-29,562,746 View the variant detail on this assembly version.
hg38	chr17:31,235,728-31,235,728

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.3826C>T	NP_000258.1:p.Arg1276Ter
	NM_001042492.2:c.3826C>T	NP_001035957.1:p.Arg1276Ter
Ensemble	ENST00000356175.7:c.3826C>T	ENST00000356175.7:p.Arg1276Ter
	ENST00000358273.9:c.3826C>T	ENST00000358273.9:p.Arg1276Ter
	ENST00000691014.1:c.3856C>T	ENST00000691014.1:p.Arg1286Ter
	ENST00000696138.1:c.3871C>T	ENST00000696138.1:p.Arg1291Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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
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Links

NF1

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	COSM30762	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000162)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-10	criteria provided, multiple submitters, no conflicts	Neurofibromatosis, type 1	de novo germline unknown	Detail
Pathogenic	2022-12-17	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2015-03-09	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-09-01	no assertion criteria provided	rhabdomyosarcoma	germline	Detail
Pathogenic	2023-03-20	criteria provided, single submitter	juvenile myelomonocytic leukemia	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.670	neurofibromatosis 1	Automated comparative sequence analysis identifies mutations in 89% of NF1 patie...	UNIPROT	15060124	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) AND Rhabdomyosarcoma	ClinVar	Detail
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) AND Juvenile myelomonocytic leukemia	ClinVar	Detail
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a m...	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: rs199474742 dbSNP
Genome: hg38
Position: chr17:31,235,728-31,235,728
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8652
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): 121384
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): 8.238318064983852E-6

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