chr17:31352319:C>T Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,679,337-29,679,337 View the variant detail on this assembly version.
hg38 chr17:31,352,319-31,352,319

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.7457C>T NP_000258.1:p.Thr2486Ile
NM_001042492.2:c.7520C>T NP_001035957.1:p.Thr2507Ile
Ensemble ENST00000356175.7:c.7457C>T ENST00000356175.7:p.Thr2486Ile
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 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
COSMIC COSM6349999 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2015-12-05 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2020-05-18 criteria provided, conflicting interpretations not provided germline Detail
Likely benign 2024-01-30 criteria provided, single submitter Neurofibromatosis, type 1 germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal unknown Detail
Uncertain significance 2020-12-10 criteria provided, single submitter not specified germline Detail
Likely benign 2020-06-05 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screen... UNIPROT 10712197 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND not specified ClinVar Detail
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND multiple conditions ClinVar Detail
More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in ... 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
rs149055633 dbSNP
Genome
hg38
Position
chr17:31,352,319-31,352,319
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
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)
121356
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.9441313161277566E-5
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