NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu) AND Progressive myoclonic epilepsy

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 13, 2024
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:: RCV001088864.7

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)

Name:: Progressive myoclonic epilepsy
Synonyms:: Myoclonic Epilepsies, Progressive; Familial progressive myoclonic epilepsy; Progressive myoclonus epilepsy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0020074; MedGen: C0751778; Orphanet: 308; OMIM: PS254800

Recent activity

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NADH dehydrogenase subunit 4L (mitochondrion) [Schizothorax gongshanensis]
NADH dehydrogenase subunit 4L (mitochondrion) [Schizothorax gongshanensis]
gi|1102547612|ref|YP_009316269.1|

Protein
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Functional dissection of MIEN1 trans-regulation provides new evidence for colorectal cancer genome editing-based therapeutics

BioProject
singleCell_spheroid_plate1_H18_S50
singleCell_spheroid_plate1_H18_S50

biosample
singleCell_spheroid_plate2_B3_S110
singleCell_spheroid_plate2_B3_S110

biosample
SRX7686642 (1)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001007321	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 13, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001007321

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 13, 2024)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001007321.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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