NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 23, 2018
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:: RCV000734839.4

Allele description [Variation Report for NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys)]

NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys)

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.277G>A (p.Glu93Lys)

Other names:

p.E93K:GAA>AAA

HGVS:

NC_000004.12:g.76181100C>T
NG_012054.1:g.37783G>A
NM_001204255.2:c.276-5190G>A
NM_005506.4:c.277G>AMANE SELECT
NP_005497.1:p.Glu93Lys
NC_000004.11:g.77102253C>T
NM_005506.3:c.277G>A

Protein change:

E93K

Links:

dbSNP: rs145870223

NCBI 1000 Genomes Browser:

rs145870223

Molecular consequence:

NM_001204255.2:c.276-5190G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_005506.4:c.277G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000863013	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Aug 23, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000863013

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Aug 23, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Coll M, Striano P, Ferrer-Costa C, Campuzano O, Matés J, Del Olmo B, Iglesias A, Pérez-Serra A, Mademont I, Picó F, Oliva A, Brugada R.

PLoS One. 2017;12(12):e0189618. doi: 10.1371/journal.pone.0189618.

PubMed [citation]

PMID:: 29261713
PMCID:: PMC5736193

Details of each submission

From Eurofins Ntd Llc (ga), SCV000863013.1

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

#	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: May 7, 2024

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