chr8:90965833:GG>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	chr8:90,965,833-90,965,834
hg38	chr8:89,953,605-89,953,606 View the variant detail on this assembly version.

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.1483_1484delinsA	NP_002476.2:p.Pro495MetfsTer34
	NM_001024688.2:c.1237_1238delinsA	NP_001019859.1:p.Pro413MetfsTer34
Ensemble	ENST00000265433.8:c.1483_1484delinsA	ENST00000265433.8:p.Pro495MetfsTer34
	ENST00000409330.5:c.1237_1238delinsA	ENST00000409330.5:p.Pro413MetfsTer34
	ENST00000517337.2:c.1237_1238delinsA	ENST00000517337.2:p.Pro413MetfsTer34
	ENST00000523444.2:c.1237_1238delinsA	ENST00000523444.2:p.Pro413MetfsTer34
	ENST00000697292.1:c.1483_1484delinsA	ENST00000697292.1:p.Pro495MetfsTer34
	ENST00000697293.1:c.1483_1484delinsA	ENST00000697293.1:p.Pro495MetfsTer34
	ENST00000697298.1:c.1237_1238delinsA	ENST00000697298.1:p.Pro413MetfsTer34
	ENST00000697299.1:c.1237_1238delinsA	ENST00000697299.1:p.Pro413MetfsTer34
	ENST00000697304.1:c.1171_1172delinsA	ENST00000697304.1:p.Pro391MetfsTer34
	ENST00000697307.1:c.1483_1484delinsA	ENST00000697307.1:p.Pro495MetfsTer34
	ENST00000697308.1:c.1483_1484delinsA	ENST00000697308.1:p.Pro495MetfsTer34
	ENST00000697309.1:c.1483_1484delinsA	ENST00000697309.1:p.Pro495MetfsTer34
	ENST00000697310.1:c.1483_1484delinsA	ENST00000697310.1:p.Pro495MetfsTer34

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic 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
Pathogenic	2021-12-15	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-06-06	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-01-06	criteria provided, multiple submitters, no conflicts	Microcephaly, normal intelligence and immunodeficiency	germline	Detail
Likely pathogenic	2022-01-19	criteria provided, single submitter	aplastic anemia,Acute lymphoid leukemia,Microcephaly, normal intelligence and immunodeficiency	unknown	Detail
Likely pathogenic	2022-01-19	criteria provided, single submitter	aplastic anemia,Acute lymphoid leukemia,Microcephaly, normal intelligence and immunodeficiency	unknown	Detail
Likely pathogenic	2022-01-19	criteria provided, single submitter	aplastic anemia,Acute lymphoid leukemia,Microcephaly, normal intelligence and immunodeficiency	unknown	Detail
Pathogenic	2023-08-14	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.1483_1484delinsA (p.Pro495fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) AND not provided	ClinVar	Detail
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) AND Microcephaly, normal intelligence and immunodef...	ClinVar	Detail
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) AND multiple conditions	ClinVar	Detail
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) AND multiple conditions	ClinVar	Detail
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) AND multiple conditions	ClinVar	Detail
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) AND Aplastic anemia	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: rs764884516 dbSNP
Genome: hg19
Position: chr8:90,965,833-90,965,834
Variant Type: snv
Reference Allele: GG
Alternative Allele: T

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