chr8:90983518:AC>G Detail (hg19) (NBN)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr8:90,983,518-90,983,519
hg38	chr8:89,971,290-89,971,291 View the variant detail on this assembly version.

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.585-1_585delinsC	NP_002476.2:p.Ser195=
	NM_001024688.2:c.339-1_339delinsC	NP_001019859.1:p.Ser113=
Ensemble	ENST00000265433.8:c.585-1_585delinsC	ENST00000265433.8:p.Ser195=
	ENST00000409330.5:c.339-1_339delinsC	ENST00000409330.5:p.Ser113=
	ENST00000517337.2:c.339-1_339delinsC	ENST00000517337.2:p.Ser113=
	ENST00000523444.2:c.339-1_339delinsC	ENST00000523444.2:p.Ser113=
	ENST00000697292.1:c.585-1_585delinsC	ENST00000697292.1:p.Ser195=
	ENST00000697293.1:c.585-1_585delinsC	ENST00000697293.1:p.Ser195=
	ENST00000697298.1:c.339-1_339delinsC	ENST00000697298.1:p.Ser113=
	ENST00000697299.1:c.339-1_339delinsC	ENST00000697299.1:p.Ser113=
	ENST00000697304.1:c.585-6784_585-6783delinsC
	ENST00000697307.1:c.585-1_585delinsC	ENST00000697307.1:p.Ser195=
	ENST00000697308.1:c.585-1_585delinsC	ENST00000697308.1:p.Ser195=
	ENST00000697309.1:c.585-1_585delinsC	ENST00000697309.1:p.Ser195=
	ENST00000697310.1:c.585-1_585delinsC	ENST00000697310.1:p.Ser195=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-02-01	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2023-02-27	criteria provided, single submitter	Microcephaly, normal intelligence and immunodeficiency	germline	Detail
Likely pathogenic	2021-11-10	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2023-08-02	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

Descrption	Source	Links
NM_002485.5(NBN):c.585-1_585delinsC AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_002485.5(NBN):c.585-1_585delinsC AND Microcephaly, normal intelligence and immunodeficiency	ClinVar	Detail
NM_002485.5(NBN):c.585-1_585delinsC AND not provided	ClinVar	Detail
NM_002485.5(NBN):c.585-1_585delinsC 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: rs786203662 dbSNP
Genome: hg19
Position: chr8:90,983,518-90,983,519
Variant Type: snv
Reference Allele: AC
Alternative Allele: G

Genome browser