chr8:90995035:TT> 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	chr8:90,995,035-90,995,036
hg38	chr8:89,982,807-89,982,808

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.85_86delAA	NP_002476.2:p.Asn30LeufsTer6
	NM_001024688.2:c.-161_-162delAA
Ensemble	ENST00000265433.8:c.85_86delAA	ENST00000265433.8:p.Asn30LeufsTer6
	ENST00000409330.5:c.-161_-162delAA
	ENST00000517337.2:c.-211_-212delAA
	ENST00000523444.2:c.-211_-212delAA
	ENST00000697292.1:c.85_86delAA	ENST00000697292.1:p.Asn30LeufsTer6
	ENST00000697293.1:c.85_86delAA	ENST00000697293.1:p.Asn30LeufsTer6
	ENST00000697298.1:c.-211_-212delAA
	ENST00000697299.1:c.-75-1284_-75-1285delAA
	ENST00000697304.1:c.85_86delAA	ENST00000697304.1:p.Asn30LeufsTer6
	ENST00000697307.1:c.85_86delAA	ENST00000697307.1:p.Asn30LeufsTer6
	ENST00000697308.1:c.85_86delAA	ENST00000697308.1:p.Asn30LeufsTer6
	ENST00000697309.1:c.85_86delAA	ENST00000697309.1:p.Asn30LeufsTer6
	ENST00000697310.1:c.85_86delAA	ENST00000697310.1:p.Asn30LeufsTer6

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	Pathogenic Likely 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	2014-02-27	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2021-11-07	criteria provided, multiple submitters, no conflicts	Microcephaly, normal intelligence and immunodeficiency	germline 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.88_89del (p.Asn30fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_002485.5(NBN):c.88_89del (p.Asn30fs) 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: rs587781718 dbSNP
Genome: hg19
Position: chr8:90,995,035-90,995,036
Variant Type: snv
Reference Allele: TT
Alternative Allele: -
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): 121358
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.240083060037246E-6

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