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NM_020311.3(ACKR3):c.772G>A (p.Val258Met) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000709941.1

Allele description [Variation Report for NM_020311.3(ACKR3):c.772G>A (p.Val258Met)]

NM_020311.3(ACKR3):c.772G>A (p.Val258Met)

Gene:
ACKR3:atypical chemokine receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_020311.3(ACKR3):c.772G>A (p.Val258Met)
HGVS:
  • NC_000002.12:g.236581237G>A
  • NM_020311.3:c.772G>AMANE SELECT
  • NP_064707.1:p.Val258Met
  • NC_000002.11:g.237489880G>A
  • NM_020311.2:c.772G>A
Protein change:
V258M; VAL258MET
Links:
OMIM: 610376.0001; dbSNP: rs200582844
NCBI 1000 Genomes Browser:
rs200582844
Molecular consequence:
  • NM_020311.3:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840301GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840301.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Apr 23, 2022