chr8:89971232:G>A Detail (hg38) (NBN)

Information

Genome

Assembly Position
hg19 chr8:90,983,460-90,983,460 View the variant detail on this assembly version.
hg38 chr8:89,971,232-89,971,232

HGVS

Type Transcript Protein
RefSeq NM_002485.4:c.643C>T NP_002476.2:p.Arg215Trp
NM_001024688.2:c.397C>T NP_001019859.1:p.Arg133Trp
Ensemble ENST00000265433.8:c.643C>T ENST00000265433.8:p.Arg215Trp
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 602667 OMIM
HGNC 7652 HGNC
Ensembl ENSG00000104320 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv357699493 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations Microcephaly, normal intelligence and immunodeficiency germline unknown Detail
Conflicting interpretations of pathogenicity 2021-05-03 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Benign Likely benign 2021-10-12 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Likely benign 2020-02-14 criteria provided, single submitter NBN-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.496 Nijmegen breakage syndrome NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.010 breast carcinoma Studies of lymphoblastoid cell lines revealed that NBS1/p95 protein levels were ... BeFree 17957789 Detail
<0.001 Developmental delay (disorder) Here, we describe for the first time a severe form of NBS without chromosomal in... BeFree 16033915 Detail
0.496 Nijmegen breakage syndrome Studies of lymphoblastoid cell lines revealed that NBS1/p95 protein levels were ... BeFree 17957789 Detail
0.496 Nijmegen breakage syndrome Here, we describe for the first time a severe form of NBS without chromosomal in... BeFree 16033915 Detail
0.194 Malignant neoplasm of breast Studies of lymphoblastoid cell lines revealed that NBS1/p95 protein levels were ... BeFree 17957789 Detail
0.496 Nijmegen breakage syndrome Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R21... BeFree 24928521 Detail
<0.001 Congenital microcephaly Here, we describe for the first time a severe form of NBS without chromosomal in... BeFree 16033915 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) AND Microcephaly, normal intelligence and immunodeficiency ClinVar Detail
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) AND not specified ClinVar Detail
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) AND not provided ClinVar Detail
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) AND NBN-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Studies of lymphoblastoid cell lines revealed that NBS1/p95 protein levels were reduced to 70% in ce... DisGeNET Detail
Here, we describe for the first time a severe form of NBS without chromosomal instability in monozyg... DisGeNET Detail
Studies of lymphoblastoid cell lines revealed that NBS1/p95 protein levels were reduced to 70% in ce... DisGeNET Detail
Here, we describe for the first time a severe form of NBS without chromosomal instability in monozyg... DisGeNET Detail
Studies of lymphoblastoid cell lines revealed that NBS1/p95 protein levels were reduced to 70% in ce... DisGeNET Detail
Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast can... DisGeNET Detail
Here, we describe for the first time a severe form of NBS without chromosomal instability in monozyg... 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
rs34767364 dbSNP
Genome
hg38
Position
chr8:89,971,232-89,971,232
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8594
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)
120222
Allele Counts in All Race (ExAC)
355
Heterozygous Counts in All Race (ExAC)
349
Homozygous Counts in All Race (ExAC)
3
Allele Frequency in All Race (ExAC)
0.002952870522866031
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