chr8:89943297:G>C 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	chr8:90,955,525-90,955,525 View the variant detail on this assembly version.
hg38	chr8:89,943,297-89,943,297

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.2140C>G	NP_002476.2:p.Arg714Gly
	NM_001024688.2:c.1894C>G	NP_001019859.1:p.Arg632Gly
Ensemble	ENST00000265433.8:c.2140C>G	ENST00000265433.8:p.Arg714Gly
	ENST00000409330.5:c.1894C>G	ENST00000409330.5:p.Arg632Gly
	ENST00000517337.2:c.1894C>G	ENST00000517337.2:p.Arg632Gly
	ENST00000523444.2:c.1894C>G	ENST00000523444.2:p.Arg632Gly
	ENST00000697292.1:c.2140C>G	ENST00000697292.1:p.Arg714Gly
	ENST00000697293.1:c.2140C>G	ENST00000697293.1:p.Arg714Gly
	ENST00000697298.1:c.1894C>G	ENST00000697298.1:p.Arg632Gly
	ENST00000697299.1:c.1894C>G	ENST00000697299.1:p.Arg632Gly
	ENST00000697304.1:c.1828C>G	ENST00000697304.1:p.Arg610Gly
	ENST00000697307.1:c.1915C>G	ENST00000697307.1:p.Arg639Gly
	ENST00000697308.1:c.2071C>G	ENST00000697308.1:p.Arg691Gly
	ENST00000697309.1:c.2140C>G	ENST00000697309.1:p.Arg714Gly
	ENST00000697310.1:c.2140C>G	ENST00000697310.1:p.Arg714Gly

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2021-09-16	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2022-09-28	criteria provided, multiple submitters, no conflicts	Microcephaly, normal intelligence and immunodeficiency	germline unknown	Detail
Uncertain significance	2020-07-15	criteria provided, single submitter	not provided	germline	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.2140C>G (p.Arg714Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) AND Microcephaly, normal intelligence and immunodeficiency	ClinVar	Detail
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) AND not provided	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: rs730881864 dbSNP
Genome: hg38
Position: chr8:89,943,297-89,943,297
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
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): 121392
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 4.118887570844866E-5

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