chr8:89971217:GTTTT> Detail (hg38) (NBN)

Information

Genome

Assembly Position
hg19 chr8:90,983,445-90,983,449 
hg38 chr8:89,971,217-89,971,221

HGVS

Type Transcript Protein
RefSeq NM_002485.4:c.654_658delAAAAC NP_002476.2:p.Lys219AsnfsTer16
NM_001024688.2:c.408_412delAAAAC NP_001019859.1:p.Lys137AsnfsTer16
Ensemble ENST00000265433.8:c.654_658delAAAAC ENST00000265433.8:p.Lys219AsnfsTer16
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
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 COSM1740923 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts Microcephaly, normal intelligence and immunodeficiency germline maternal unknown Detail
Pathogenic 2020-04-02 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1 germline unknown Detail
Pathogenic 2021-08-13 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline maternal Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2015-10-06 criteria provided, single submitter microcephaly,lissencephaly unknown Detail
Pathogenic 2015-10-06 criteria provided, single submitter microcephaly,lissencephaly unknown Detail
Pathogenic 2019-06-11 no assertion criteria provided Breast and/or ovarian cancer germline Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2021-03-04 no assertion criteria provided Carcinoma of pancreas germline Detail
not provided no assertion provided Familial cancer of breast,Microcephaly, normal intelligence and immunodeficiency unknown Detail
not provided no assertion provided Familial cancer of breast,Microcephaly, normal intelligence and immunodeficiency unknown Detail
Pathogenic 2021-08-20 no assertion criteria provided breast carcinoma germline Detail
Likely pathogenic 2022-05-17 no assertion criteria provided hepatocellular carcinoma germline Detail
Pathogenic 2023-03-03 criteria provided, single submitter NBN-related disorder germline Detail
Pathogenic 2023-10-31 criteria provided, single submitter aplastic anemia unknown 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
0.120 Breast-ovarian cancer, familial, susceptibility to, 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Microcephaly, normal intelligence and immunodeficienc... ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND not provided ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND multiple conditions ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND multiple conditions ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Breast and/or ovarian cancer ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Malignant tumor of breast ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Carcinoma of pancreas ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND multiple conditions ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND multiple conditions ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Breast carcinoma ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Hepatocellular carcinoma ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND NBN-related disorder ClinVar Detail
NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Aplastic anemia 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
rs587776650 dbSNP
Genome
hg38
Position
chr8:89,971,217-89,971,221
Variant Type
snv
Reference Allele
GTTTT
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8532
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)
119292
Allele Counts in All Race (ExAC)
23
Heterozygous Counts in All Race (ExAC)
23
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.9280421151460282E-4
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