chr17:29550496:ACTA> Detail (hg19) (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	chr17:29,550,496-29,550,499
hg38	chr17:31,223,478-31,223,481

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_001042492.2:c.1756_1759delACTA	NP_001035957.1:p.Thr586ValfsTer18
	NM_000267.3:c.1756_1759delACTA	NP_000258.1:p.Thr586ValfsTer18
Ensemble	ENST00000358273.9:c.1756_1759delACTA	ENST00000358273.9:p.Thr586ValfsTer18
	ENST00000696138.1:c.1801_1804delACTA	ENST00000696138.1:p.Thr601ValfsTer18
	ENST00000691014.1:c.1786_1789delACTA	ENST00000691014.1:p.Thr596ValfsTer18
	ENST00000356175.7:c.1756_1759delACTA	ENST00000356175.7:p.Thr586ValfsTer18

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM6853566	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2015-11-12	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2024-05-28	criteria provided, conflicting interpretations	Neurofibromatosis, type 1	germline inherited unknown	Detail
Pathogenic	2021-11-22	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2019-06-29	no assertion criteria provided	neurofibroma	germline	Detail
Pathogenic	2023-02-10	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2023-05-25	criteria provided, single submitter	juvenile myelomonocytic leukemia	unknown	Detail
Pathogenic	2023-04-19	criteria provided, single submitter	NF1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) AND Neurofibroma	ClinVar	Detail
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) AND Inborn genetic diseases	ClinVar	Detail
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) AND Juvenile myelomonocytic leukemia	ClinVar	Detail
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) AND NF1-related disorder	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: rs786202782 dbSNP
Genome: hg19
Position: chr17:29,550,496-29,550,499
Variant Type: snv
Reference Allele: ACTA
Alternative Allele: -

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