chr8:89958760: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	chr8:90,970,988-90,970,988 View the variant detail on this assembly version.
hg38	chr8:89,958,760-89,958,760

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.1089C>T	NP_002476.2:p.Tyr363=
	NM_001024688.2:c.843C>T	NP_001019859.1:p.Tyr281=
Ensemble	ENST00000265433.8:c.1089C>T	ENST00000265433.8:p.Tyr363=
	ENST00000409330.5:c.843C>T	ENST00000409330.5:p.Tyr281=
	ENST00000517337.2:c.843C>T	ENST00000517337.2:p.Tyr281=
	ENST00000523444.2:c.843C>T	ENST00000523444.2:p.Tyr281=
	ENST00000697292.1:c.1089C>T	ENST00000697292.1:p.Tyr363=
	ENST00000697293.1:c.1089C>T	ENST00000697293.1:p.Tyr363=
	ENST00000697298.1:c.843C>T	ENST00000697298.1:p.Tyr281=
	ENST00000697299.1:c.843C>T	ENST00000697299.1:p.Tyr281=
	ENST00000697304.1:c.777C>T	ENST00000697304.1:p.Tyr259=
	ENST00000697307.1:c.1089C>T	ENST00000697307.1:p.Tyr363=
	ENST00000697308.1:c.1089C>T	ENST00000697308.1:p.Tyr363=
	ENST00000697309.1:c.1089C>T	ENST00000697309.1:p.Tyr363=
	ENST00000697310.1:c.1089C>T	ENST00000697310.1:p.Tyr363=

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	tgv33898267	TogoVar
	COSMIC	COSM245943	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2021-07-22	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Benign Likely benign	2019-12-27	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Uncertain significance	2015-04-10	criteria provided, single submitter	not provided	germline	Detail
Conflicting interpretations of pathogenicity	2023-12-31	criteria provided, conflicting interpretations	Microcephaly, normal intelligence and immunodeficiency	germline	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.1089C>T (p.Tyr363=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) AND not specified	ClinVar	Detail
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) AND not provided	ClinVar	Detail
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) AND Microcephaly, normal intelligence and immunodeficiency	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: rs121908974 dbSNP
Genome: hg38
Position: chr8:89,958,760-89,958,760
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8652
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): 121350
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.296250515039143E-5

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