chr8:89970418:A>C 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	chr8:90,982,646-90,982,646 View the variant detail on this assembly version.
hg38	chr8:89,970,418-89,970,418

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.842T>G	NP_002476.2:p.Leu281Ter
	NM_001024688.2:c.596T>G	NP_001019859.1:p.Leu199Ter
Ensemble	ENST00000265433.8:c.842T>G	ENST00000265433.8:p.Leu281Ter
	ENST00000409330.5:c.596T>G	ENST00000409330.5:p.Leu199Ter
	ENST00000517337.2:c.596T>G	ENST00000517337.2:p.Leu199Ter
	ENST00000523444.2:c.596T>G	ENST00000523444.2:p.Leu199Ter
	ENST00000697292.1:c.842T>G	ENST00000697292.1:p.Leu281Ter
	ENST00000697293.1:c.842T>G	ENST00000697293.1:p.Leu281Ter
	ENST00000697298.1:c.596T>G	ENST00000697298.1:p.Leu199Ter
	ENST00000697299.1:c.596T>G	ENST00000697299.1:p.Leu199Ter
	ENST00000697304.1:c.585-5911T>G
	ENST00000697307.1:c.842T>G	ENST00000697307.1:p.Leu281Ter
	ENST00000697308.1:c.842T>G	ENST00000697308.1:p.Leu281Ter
	ENST00000697309.1:c.842T>G	ENST00000697309.1:p.Leu281Ter
	ENST00000697310.1:c.842T>G	ENST00000697310.1:p.Leu281Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-04-15	criteria provided, multiple submitters, no conflicts	Microcephaly, normal intelligence and immunodeficiency	germline paternal	Detail
Pathogenic	2022-03-29	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-03-22	criteria provided, single submitter	NBN-related disorder	germline	Detail
Pathogenic	2023-04-17	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

Annotation

Annotations

Descrption	Source	Links
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) AND Microcephaly, normal intelligence and immunodeficiency	ClinVar	Detail
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) AND NBN-related disorder	ClinVar	Detail
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) 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: rs786205135 dbSNP
Genome: hg38
Position: chr8:89,970,418-89,970,418
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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