chr17:31327718:C>T Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,654,736-29,654,736 View the variant detail on this assembly version.
hg38 chr17:31,327,718-31,327,718

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.5425C>T NP_000258.1:p.Arg1809Cys
NM_001042492.2:c.5488C>T NP_001035957.1:p.Arg1830Cys
Ensemble ENST00000356175.7:c.5425C>T ENST00000356175.7:p.Arg1809Cys
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
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 tgv286790775 TogoVar
COSMIC COSM39600 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-03-25 criteria provided, conflicting interpretations Neurofibromatosis, type 1 de novo germline unknown Detail
Conflicting interpretations of pathogenicity 2022-09-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Pathogenic 2019-04-01 criteria provided, single submitter not specified germline Detail
Pathogenic 2019-06-26 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal germline Detail
Pathogenic 2019-06-26 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal germline Detail
Pathogenic 2019-06-26 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal germline Detail
Pathogenic 2019-06-26 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal germline Detail
Pathogenic 2020-04-20 criteria provided, single submitter intellectual disability de novo Detail
Pathogenic 2022-03-31 criteria provided, multiple submitters, no conflicts neurofibromatosis-Noonan syndrome germline unknown Detail
Pathogenic criteria provided, single submitter de novo Detail
Pathogenic 2021-03-17 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2021-10-22 criteria provided, multiple submitters, no conflicts Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis germline unknown Detail
Pathogenic 2021-10-22 criteria provided, multiple submitters, no conflicts Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis germline unknown Detail
Pathogenic 2021-10-22 criteria provided, multiple submitters, no conflicts Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis germline unknown Detail
Pathogenic 2021-10-22 criteria provided, multiple submitters, no conflicts Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis germline unknown Detail
Pathogenic 2021-10-22 criteria provided, multiple submitters, no conflicts Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis germline unknown Detail
Pathogenic 2022-07-20 criteria provided, single submitter juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2023-12-20 criteria provided, single submitter NF1-related disorder 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.5488C>T (p.Arg1830Cys) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND not specified ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND Intellectual disability ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND Neurofibromatosis-Noonan syndrome ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND Neurodevelopmental delay ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND Juvenile myelomonocytic leukemia ClinVar Detail
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) 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
rs797045139 dbSNP
Genome
hg38
Position
chr17:31,327,718-31,327,718
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser