chr17:31229308:T>C Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,556,326-29,556,326 View the variant detail on this assembly version.
hg38 chr17:31,229,308-31,229,308

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.2693T>C NP_000258.1:p.Leu898Pro
NM_001042492.2:c.2693T>C NP_001035957.1:p.Leu898Pro
Ensemble ENST00000356175.7:c.2693T>C ENST00000356175.7:p.Leu898Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2022-07-29 criteria provided, single submitter not provided germline not provided Detail
Likely pathogenic 2015-10-01 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2024-03-25 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline Detail
Likely pathogenic 2021-12-20 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal unknown Detail
Likely pathogenic 2021-12-20 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal unknown Detail
Likely pathogenic 2021-12-20 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal unknown Detail
Likely pathogenic 2021-12-20 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal unknown Detail
Likely pathogenic 2021-12-20 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.670 neurofibromatosis 1 These children exhibited a constitutional genetic instability associated with cl... UNIPROT 12522551 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
These children exhibited a constitutional genetic instability associated with clinical features of d... 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
rs199474786 dbSNP
Genome
hg38
Position
chr17:31,229,308-31,229,308
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser