chr17:29556972:AAT> Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,556,972-29,556,974
hg38 chr17:31,229,954-31,229,956 

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.2970_2972delAAT NP_000258.1:p.Met992del
NM_001042492.2:c.2970_2972delAAT NP_001035957.1:p.Met992del
Ensemble ENST00000356175.7:c.2970_2972delAAT ENST00000356175.7:p.Met992del
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2021/03/19 Colorectal germline MGS000050
(TMGS000114)
Yukihide Momozawa
Koichi Matsuda
RIKEN
The University of Tokyo
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-01-01 no assertion criteria provided neurofibromatosis-Noonan syndrome germline Detail
Pathogenic 2007-01-01 no assertion criteria provided Café-au-lait macules with pulmonary stenosis germline Detail
Pathogenic Likely pathogenic 2023-11-24 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline unknown Detail
Pathogenic 2015-01-19 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-11-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-09-28 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal unknown Detail
Pathogenic 2021-09-28 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal unknown Detail
Pathogenic 2021-09-28 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal unknown Detail
Pathogenic 2021-09-28 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal unknown Detail
Pathogenic 2021-09-28 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2021-09-26 criteria provided, single submitter juvenile myelomonocytic leukemia unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 NA CLINVAR Detail
0.482 neurofibromatosis-Noonan syndrome NA CLINVAR Detail
0.361 Cafe-au-lait macules with pulmonary stenosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Neurofibromatosis-Noonan syndrome ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Café-au-lait macules with pulmonary stenosis ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Gastric cancer ClinVar Detail
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Juvenile myelomonocytic leukemia ClinVar Detail
NA DisGeNET Detail
NA 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
rs267606606 dbSNP
Genome
hg19
Position
chr17:29,556,972-29,556,974
Variant Type
snv
Reference Allele
AAT
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8652
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)
120410
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.304958059961797E-6
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