chr8:90995016:A>T Detail (hg19) (NBN)

Information

Genome

Assembly Position
hg19 chr8:90,995,016-90,995,016
hg38 chr8:89,982,788-89,982,788 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001024688.2:c.-142T>A
NM_002485.4:c.105T>A NP_002476.2:p.Ile35=
Ensemble ENST00000523444.2:c.-192T>A
Summary

MGeND

Clinical significance Benign Likely benign
Variant entry 6
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 Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 602667 OMIM
HGNC 7652 HGNC
Ensembl ENSG00000104320 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
Benign 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Benign 2021/03/19 prostate germline MGS000049
(TMGS000113) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Benign 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Likely benign 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2024-01-25 criteria provided, single submitter Microcephaly, normal intelligence and immunodeficiency germline Detail
Likely benign 2016-11-08 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2019-07-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_002485.5(NBN):c.105T>A (p.Ile35=) AND Microcephaly, normal intelligence and immunodeficiency ClinVar Detail
NM_002485.5(NBN):c.105T>A (p.Ile35=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_002485.5(NBN):c.105T>A (p.Ile35=) AND not provided ClinVar 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
rs78870221 dbSNP
Genome
hg19
Position
chr8:90,995,016-90,995,016
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
5
East Asian Heterozygous Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.777675063554426E-4
Chromosome Counts in All Race (ExAC)
121386
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.1190911637256357E-5
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