chr17:31225134:G>A 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	chr17:29,552,152-29,552,152 View the variant detail on this assembly version.
hg38	chr17:31,225,134-31,225,134

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.1885G>A	NP_000258.1:p.Gly629Arg
	NM_001042492.2:c.1885G>A	NP_001035957.1:p.Gly629Arg
Ensemble	ENST00000356175.7:c.1885G>A	ENST00000356175.7:p.Gly629Arg
	ENST00000358273.9:c.1885G>A	ENST00000358273.9:p.Gly629Arg
	ENST00000691014.1:c.1915G>A	ENST00000691014.1:p.Gly639Arg
	ENST00000696138.1:c.1930G>A	ENST00000696138.1:p.Gly644Arg

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	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	COSM220089	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	2021-10-25	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2015-05-07	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2024-03-25	criteria provided, conflicting interpretations	Neurofibromatosis, type 1	germline unknown	Detail
Pathogenic	2019-05-09	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2018-11-10	criteria provided, single submitter	Neurofibromatosis, type 1	maternal	Detail
not provided		no assertion provided	Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1	unknown	Detail
not provided		no assertion provided	Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1	unknown	Detail
not provided		no assertion provided	Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1	unknown	Detail
Pathogenic	2021-07-01	no assertion criteria provided	Gastric cancer	germline	Detail
Pathogenic	2022-08-24	criteria provided, single submitter	NF1-related disorder	germline	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
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND not specified	ClinVar	Detail
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND Gastric cancer	ClinVar	Detail
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND NF1-related disorder	ClinVar	Detail
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a m...	DisGeNET	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: rs199474738 dbSNP
Genome: hg38
Position: chr17:31,225,134-31,225,134
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8648
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): 121202
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.650137786505173E-5

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