chr8:89982788:A>T Detail (hg38) (NBN)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr8:90,995,016-90,995,016 View the variant detail on this assembly version.
hg38	chr8:89,982,788-89,982,788

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.105T>A	NP_002476.2:p.Ile35=
	NM_001024688.2:c.-142T>A
Ensemble	ENST00000265433.8:c.105T>A	ENST00000265433.8:p.Ile35=
	ENST00000409330.5:c.-142T>A
	ENST00000517337.2:c.-192T>A
	ENST00000523444.2:c.-192T>A
	ENST00000697292.1:c.105T>A	ENST00000697292.1:p.Ile35=
	ENST00000697293.1:c.105T>A	ENST00000697293.1:p.Ile35=
	ENST00000697298.1:c.-192T>A
	ENST00000697299.1:c.-75-1265T>A
	ENST00000697304.1:c.105T>A	ENST00000697304.1:p.Ile35=
	ENST00000697307.1:c.105T>A	ENST00000697307.1:p.Ile35=
	ENST00000697308.1:c.105T>A	ENST00000697308.1:p.Ile35=
	ENST00000697309.1:c.105T>A	ENST00000697309.1:p.Ile35=
	ENST00000697310.1:c.105T>A	ENST00000697310.1:p.Ile35=

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 benign
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
Likely benign	2024-01-25	criteria provided, single submitter	Microcephaly, normal intelligence and immunodeficiency	germline	Detail
Likely benign	2016-11-08	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2019-07-10	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_002485.5(NBN):c.105T>A (p.Ile35=) AND Microcephaly, normal intelligence and immunodeficiency	ClinVar	Detail
NM_002485.5(NBN):c.105T>A (p.Ile35=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_002485.5(NBN):c.105T>A (p.Ile35=) AND not provided	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: -
dbSNP: rs78870221 dbSNP
Genome: hg38
Position: chr8:89,982,788-89,982,788
Variant Type: snv
Reference Allele: A
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 5
East Asian Heterozygous Counts (ExAC): 5
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 5.777675063554426E-4
Chromosome Counts in All Race (ExAC): 121386
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.1190911637256357E-5

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