chr2:136872485:G>C Detail (hg19) (CXCR4)

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

Genome

Assembly	Position
hg19	chr2:136,872,485-136,872,485
hg38	chr2:136,114,915-136,114,915 View the variant detail on this assembly version.

HGVS

CXCR4

Type	Transcript	Protein
RefSeq	NM_003467.2:c.1013C>G	NP_003458.1:p.Ser338Ter
	NM_001008540.1:c.1025C>G	NP_001008540.1:p.Ser342Ter
Ensemble	ENST00000241393.4:c.1013C>G	ENST00000241393.4:p.Ser338Ter
	ENST00000409817.1:c.1025C>G	ENST00000409817.1:p.Ser342Ter
	ENST00000466288.1:c.968C>G	ENST00000466288.1:p.Ser323Ter
	ENST00000696136.1:c.1001C>G	ENST00000696136.1:p.Ser334Ter
	ENST00000696137.1:c.968C>G	ENST00000696137.1:p.Ser323Ter
	ENST00000696152.1:c.968C>G	ENST00000696152.1:p.Ser323Ter
	ENST00000696228.1:c.1001C>G	ENST00000696228.1:p.Ser334Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

CXCR4

Type	Database	ID	Link
Gene	MIM	162643	OMIM
	HGNC	2561	HGNC
	Ensembl	ENSG00000121966	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM5981986	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2017-11-02	criteria provided, single submitter	Warts, hypogammaglobulinemia, infections, and myelokathexis	germline	Detail
Pathogenic	2019-12-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2021-10-01	criteria provided, multiple submitters, no conflicts	WHIM syndrome 1	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.450	WHIM syndrome	NA	CLINVAR		Detail
0.006	Waldenstrom Macroglobulinemia	The WHIM-like CXCR4(S338X) somatic mutation activates AKT and ERK, and promotes ...	BeFree	24912431	Detail
0.450	WHIM syndrome	We screened 418 patients with B-cell lymphoproliferative disorders and described...	BeFree	24711662	Detail
0.008	Tumor Progression	C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of dru...	BeFree	24711662	Detail
<0.001	B-Cell Lymphomas	We screened 418 patients with B-cell lymphoproliferative disorders and described...	BeFree	24711662	Detail
<0.001	Malignant lymphoma - lymphoplasmacytic	C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of dru...	BeFree	24711662	Detail
0.006	Waldenstrom Macroglobulinemia	C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of dru...	BeFree	24711662	Detail

Annotation

Annotations

Descrption	Source	Links
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter) AND Warts, hypogammaglobulinemia, infections, and myeloka...	ClinVar	Detail
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter) AND not provided	ClinVar	Detail
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter) AND WHIM syndrome 1	ClinVar	Detail
NA	DisGeNET	Detail
The WHIM-like CXCR4(S338X) somatic mutation activates AKT and ERK, and promotes resistance to ibruti...	DisGeNET	Detail
We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the...	DisGeNET	Detail
C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymp...	DisGeNET	Detail
We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the...	DisGeNET	Detail
C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymp...	DisGeNET	Detail
C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymp...	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: rs104893626 dbSNP
Genome: hg19
Position: chr2:136,872,485-136,872,485
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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