chr8:90949252:A>C 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	chr8:90,949,252-90,949,252
hg38	chr8:89,937,024-89,937,024 View the variant detail on this assembly version.

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.2234+2T>G
	NM_001024688.2:c.1988+2T>G
Ensemble	ENST00000265433.8:c.2234+2T>G
	ENST00000409330.5:c.1988+2T>G
	ENST00000517337.2:c.1988+2T>G
	ENST00000523444.2:c.1988+2T>G
	ENST00000697292.1:c.2234+2T>G
	ENST00000697293.1:c.2285+2T>G
	ENST00000697298.1:c.1988+2T>G
	ENST00000697299.1:c.1988+2T>G
	ENST00000697304.1:c.1922+2T>G
	ENST00000697307.1:c.2009+2T>G
	ENST00000697308.1:c.2165+2T>G
	ENST00000697309.1:c.2185-1412T>G
	ENST00000697310.1:c.2234+2T>G

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	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	2023-07-03	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2023-03-15	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2023-11-07	criteria provided, single submitter	Microcephaly, normal intelligence and immunodeficiency	germline	Detail
Likely pathogenic	2022-12-12	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.2234+2T>G AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_002485.5(NBN):c.2234+2T>G AND not provided	ClinVar	Detail
NM_002485.5(NBN):c.2234+2T>G AND Microcephaly, normal intelligence and immunodeficiency	ClinVar	Detail
NM_002485.5(NBN):c.2234+2T>G AND Aplastic anemia	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs142301194 dbSNP
Genome: hg19
Position: chr8:90,949,252-90,949,252
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8534
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): 115096
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): 8.688399249322305E-6

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