chr8:90965728:G>T Detail (hg19) (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	chr8:90,965,728-90,965,728
hg38	chr8:89,953,500-89,953,500 View the variant detail on this assembly version.

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_001024688.2:c.1343C>A	NP_001019859.1:p.Ser448Tyr
	NM_002485.4:c.1589C>A	NP_002476.2:p.Ser530Tyr
Ensemble	ENST00000409330.5:c.1343C>A	ENST00000409330.5:p.Ser448Tyr
	ENST00000265433.8:c.1589C>A	ENST00000265433.8:p.Ser530Tyr
	ENST00000517337.2:c.1343C>A	ENST00000517337.2:p.Ser448Tyr
	ENST00000523444.2:c.1343C>A	ENST00000523444.2:p.Ser448Tyr
	ENST00000697292.1:c.1589C>A	ENST00000697292.1:p.Ser530Tyr
	ENST00000697293.1:c.1589C>A	ENST00000697293.1:p.Ser530Tyr
	ENST00000697298.1:c.1343C>A	ENST00000697298.1:p.Ser448Tyr
	ENST00000697299.1:c.1343C>A	ENST00000697299.1:p.Ser448Tyr
	ENST00000697304.1:c.1277C>A	ENST00000697304.1:p.Ser426Tyr
	ENST00000697307.1:c.1589C>A	ENST00000697307.1:p.Ser530Tyr
	ENST00000697308.1:c.1589C>A	ENST00000697308.1:p.Ser530Tyr
	ENST00000697309.1:c.1589C>A	ENST00000697309.1:p.Ser530Tyr
	ENST00000697310.1:c.1589C>A	ENST00000697310.1:p.Ser530Tyr

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM6722459	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		descending colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2019-08-30	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-11-14	criteria provided, single submitter	Microcephaly, normal intelligence and immunodeficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_002485.5(NBN):c.1589C>A (p.Ser530Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_002485.5(NBN):c.1589C>A (p.Ser530Tyr) AND Microcephaly, normal intelligence and immunodeficiency	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: -
Genome: hg19
Position: chr8:90,965,728-90,965,728
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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