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NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 23, 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:
RCV000766745.5

Allele description [Variation Report for NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)]

NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)

Gene:
SCARB2:scavenger receptor class B member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.1
Genomic location:
Preferred name:
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)
Other names:
p.G462E:GGA>GAA
HGVS:
  • NC_000004.12:g.76163238C>T
  • NG_012054.1:g.55645G>A
  • NM_001204255.2:c.956G>A
  • NM_005506.4:c.1385G>AMANE SELECT
  • NP_001191184.1:p.Gly319Glu
  • NP_005497.1:p.Gly462Glu
  • NC_000004.11:g.77084391C>T
  • NM_005506.3:c.1385G>A
Protein change:
G319E
Links:
dbSNP: rs117157204
NCBI 1000 Genomes Browser:
rs117157204
Molecular consequence:
  • NM_001204255.2:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005506.4:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242430GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Apr 23, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000242430.14

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

Last Updated: Sep 29, 2024