chr17:31223532:T>C Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,550,550-29,550,550 View the variant detail on this assembly version.
hg38 chr17:31,223,532-31,223,532

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.1810T>C NP_000258.1:p.Leu604=
NM_001042492.2:c.1810T>C NP_001035957.1:p.Leu604=
Ensemble ENST00000356175.7:c.1810T>C ENST00000356175.7:p.Leu604=
Summary

MGeND

Clinical significance
Variant entry
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 Benign Likely benign
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 tgv398612826 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2020-10-07 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline Detail
Benign 2021-10-19 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Likely benign 2018-01-13 criteria provided, single submitter Neurofibromatosis, familial spinal germline Detail
Benign 2018-01-13 criteria provided, single submitter neurofibromatosis-Noonan syndrome germline Detail
Likely benign 2018-01-13 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis germline Detail
Benign Likely benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2019-05-08 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2022-04-11 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal unknown Detail
Likely benign 2022-04-11 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal unknown Detail
Likely benign 2022-04-11 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal unknown Detail
Likely benign 2022-04-11 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal unknown Detail
Likely benign 2022-04-11 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal unknown Detail
Benign 2019-10-25 criteria provided, single submitter NF1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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.1810T>C (p.Leu604=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND not specified ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND Neurofibromatosis, familial spinal ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND Neurofibromatosis-Noonan syndrome ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND Café-au-lait macules with pulmonary stenosis ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) AND NF1-related disorder ClinVar 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
rs142712751 dbSNP
Genome
hg38
Position
chr17:31,223,532-31,223,532
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8634
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)
120660
Allele Counts in All Race (ExAC)
153
Heterozygous Counts in All Race (ExAC)
153
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.001268025857782198
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