chr8:89970485:C>T 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	chr8:90,982,713-90,982,713 View the variant detail on this assembly version.
hg38	chr8:89,970,485-89,970,485

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.775G>A	NP_002476.2:p.Glu259Lys
	NM_001024688.2:c.529G>A	NP_001019859.1:p.Glu177Lys
Ensemble	ENST00000265433.8:c.775G>A	ENST00000265433.8:p.Glu259Lys
	ENST00000409330.5:c.529G>A	ENST00000409330.5:p.Glu177Lys
	ENST00000517337.2:c.529G>A	ENST00000517337.2:p.Glu177Lys
	ENST00000523444.2:c.529G>A	ENST00000523444.2:p.Glu177Lys
	ENST00000697292.1:c.775G>A	ENST00000697292.1:p.Glu259Lys
	ENST00000697293.1:c.775G>A	ENST00000697293.1:p.Glu259Lys
	ENST00000697298.1:c.529G>A	ENST00000697298.1:p.Glu177Lys
	ENST00000697299.1:c.529G>A	ENST00000697299.1:p.Glu177Lys
	ENST00000697304.1:c.585-5978G>A
	ENST00000697307.1:c.775G>A	ENST00000697307.1:p.Glu259Lys
	ENST00000697308.1:c.775G>A	ENST00000697308.1:p.Glu259Lys
	ENST00000697309.1:c.775G>A	ENST00000697309.1:p.Glu259Lys
	ENST00000697310.1:c.775G>A	ENST00000697310.1:p.Glu259Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	tgv357699468	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-05-26	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-12-13	criteria provided, multiple submitters, no conflicts	Microcephaly, normal intelligence and immunodeficiency	germline	Detail
Uncertain significance	2018-06-05	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Microcephaly, normal intelligence and immunodeficiency,aplastic anemia,Acute lymphoid leukemia	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Microcephaly, normal intelligence and immunodeficiency,aplastic anemia,Acute lymphoid leukemia	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Microcephaly, normal intelligence and immunodeficiency,aplastic anemia,Acute lymphoid leukemia	unknown	Detail
Uncertain significance	2018-12-20	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2023-11-07	criteria provided, single submitter	NBN-related disorder	germline	Detail
Uncertain significance	2023-10-10	criteria provided, single submitter	aplastic anemia	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) AND Microcephaly, normal intelligence and immunodeficiency	ClinVar	Detail
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) AND not provided	ClinVar	Detail
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) AND multiple conditions	ClinVar	Detail
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) AND multiple conditions	ClinVar	Detail
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) AND multiple conditions	ClinVar	Detail
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) AND not specified	ClinVar	Detail
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) AND NBN-related disorder	ClinVar	Detail
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) AND Aplastic anemia	ClinVar	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: rs201559159 dbSNP
Genome: hg38
Position: chr8:89,970,485-89,970,485
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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