NM_003467.3(CXCR4):c.988_989del (p.Ser330fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 21, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001509164.5

Allele description [Variation Report for NM_003467.3(CXCR4):c.988_989del (p.Ser330fs)]

NM_003467.3(CXCR4):c.988_989del (p.Ser330fs)

Gene:

CXCR4:C-X-C motif chemokine receptor 4 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2q22.1

Genomic location:

Preferred name:

NM_003467.3(CXCR4):c.988_989del (p.Ser330fs)

HGVS:

NC_000002.12:g.136114940AG[1]
NG_011587.1:g.8214TC[1]
NM_001008540.2:c.1000_1001del
NM_001348056.2:c.1201_1202del
NM_001348059.2:c.1087_1088del
NM_001348060.2:c.943_944del
NM_003467.3:c.988_989delMANE SELECT
NP_001008540.1:p.Ser334fs
NP_001334985.1:p.Ser401fs
NP_001334988.1:p.Ser363fs
NP_001334989.1:p.Ser315fs
NP_003458.1:p.Ser330fs
LRG_51t1:c.988_989del
LRG_51:g.8214TC[1]
NC_000002.11:g.136872510AG[1]
NM_003467.2:c.988_989delTC
p.Ser330Glnfs*13

Protein change:

S315fs

Links:

dbSNP: rs2104915614

NCBI 1000 Genomes Browser:

rs2104915614

Molecular consequence:

NM_001008540.2:c.1000_1001del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348056.2:c.1201_1202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348059.2:c.1087_1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348060.2:c.943_944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003467.3:c.988_989del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001715723	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 21, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28643496, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001715723

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 21, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child.

Shin DW, Park SN, Kim SM, Im K, Kim JA, Hong KT, Choi JY, Hong CR, Park KD, Shin HY, Kang HJ, Kim HK, Lee DS.

Ann Lab Med. 2017 Sep;37(5):446-449. doi: 10.3343/alm.2017.37.5.446. No abstract available.

PubMed [citation]

PMID:: 28643496
PMCID:: PMC5500746

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001715723.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

PVS1, PM1, PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine