chr8:89947835:T>A Detail (hg38) (NBN, LOC126860438)

Information

Genome

Assembly Position
hg19 chr8:90,960,063-90,960,063 View the variant detail on this assembly version.
hg38 chr8:89,947,835-89,947,835

HGVS

Type Transcript Protein
RefSeq NM_002485.4:c.1903A>T NP_002476.2:p.Lys635Ter
NM_001024688.2:c.1657A>T NP_001019859.1:p.Lys553Ter
Ensemble ENST00000265433.8:c.1903A>T ENST00000265433.8:p.Lys635Ter
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 Pathogenic Likely pathogenic
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-01-24 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2023-02-21 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2024-01-12 criteria provided, multiple submitters, no conflicts Microcephaly, normal intelligence and immunodeficiency germline unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Acute lymphoid leukemia,Microcephaly, normal intelligence and immunodeficiency,aplastic anemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Acute lymphoid leukemia,Microcephaly, normal intelligence and immunodeficiency,aplastic anemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Acute lymphoid leukemia,Microcephaly, normal intelligence and immunodeficiency,aplastic anemia unknown Detail
Pathogenic 2023-10-14 criteria provided, single submitter aplastic anemia unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) AND not provided ClinVar Detail
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) AND Microcephaly, normal intelligence and immunodeficiency ClinVar Detail
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) AND multiple conditions ClinVar Detail
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) AND multiple conditions ClinVar Detail
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) AND multiple conditions ClinVar Detail
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) AND Aplastic anemia ClinVar 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
rs587782545 dbSNP
Genome
hg38
Position
chr8:89,947,835-89,947,835
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
4680
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)
59228
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.065171878165732E-5
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