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NM_000682.7(ADRA2B):c.1079G>A (p.Arg360Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 2020
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:
RCV001591708.1

Allele description [Variation Report for NM_000682.7(ADRA2B):c.1079G>A (p.Arg360Gln)]

NM_000682.7(ADRA2B):c.1079G>A (p.Arg360Gln)

Gene:
ADRA2B:adrenoceptor alpha 2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_000682.7(ADRA2B):c.1079G>A (p.Arg360Gln)
HGVS:
  • NC_000002.12:g.96115071C>T
  • NG_032950.1:g.6079G>A
  • NM_000682.7:c.1079G>AMANE SELECT
  • NP_000673.2:p.Arg360Gln
  • NC_000002.11:g.96780819C>T
Protein change:
R360Q
Links:
dbSNP: rs757853154
NCBI 1000 Genomes Browser:
rs757853154
Molecular consequence:
  • NM_000682.7:c.1079G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001815751New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Oct 2, 2020) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001815751.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023