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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

NBN

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
	ENST00000409330.5:c.397C>T	ENST00000409330.5:p.Arg133Trp
	ENST00000517337.2:c.397C>T	ENST00000517337.2:p.Arg133Trp
	ENST00000523444.2:c.397C>T	ENST00000523444.2:p.Arg133Trp
	ENST00000697292.1:c.643C>T	ENST00000697292.1:p.Arg215Trp
	ENST00000697293.1:c.643C>T	ENST00000697293.1:p.Arg215Trp
	ENST00000697298.1:c.397C>T	ENST00000697298.1:p.Arg133Trp
	ENST00000697299.1:c.397C>T	ENST00000697299.1:p.Arg133Trp
	ENST00000697304.1:c.585-6725C>T
	ENST00000697307.1:c.643C>T	ENST00000697307.1:p.Arg215Trp
	ENST00000697308.1:c.643C>T	ENST00000697308.1:p.Arg215Trp
	ENST00000697309.1:c.643C>T	ENST00000697309.1:p.Arg215Trp
	ENST00000697310.1:c.643C>T	ENST00000697310.1: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

NBN

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

Descrption	Source	Links
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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