NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del) AND Charcot-Marie-Tooth disease type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 12, 2021
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:: RCV001889054.6

Allele description [Variation Report for NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del)]

NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del)

Genes:

BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
HNRNPUL2-BSCL2:HNRNPUL2-BSCL2 readthrough (NMD candidate) [Gene - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

11q12.3

Genomic location:

Preferred name:

NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del)

HGVS:

NC_000011.10:g.62690670CTC[2]
NG_008461.1:g.23897GAG[2]
NG_033077.1:g.4222GAG[2]
NM_001122955.4:c.1168GAG[2]MANE SELECT
NM_001130702.2:c.834GAG[2]
NM_001386027.1:c.1174GAG[2]
NM_001386028.1:c.1168GAG[2]
NM_032667.6:c.976GAG[2]
NP_001116427.1:p.Glu392del
NP_001124174.2:p.Arg281del
NP_001372956.1:p.Glu394del
NP_001372957.1:p.Glu392del
NP_116056.3:p.Glu328del
LRG_235t2:c.976GAG[2]
LRG_235:g.23897GAG[2]
LRG_235p2:p.Glu328del
NC_000011.9:g.62458142CTC[2]
NC_000011.9:g.62458142_62458144del
NM_001122955.4:c.1174_1176delMANE SELECT
NR_037946.1:n.3688GAG[2]

Protein change:

E328del

Links:

dbSNP: rs769661232

NCBI 1000 Genomes Browser:

rs769661232

Molecular consequence:

NM_001122955.4:c.1168GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001130702.2:c.834GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001386027.1:c.1174GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001386028.1:c.1168GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_032667.6:c.976GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_037946.1:n.3688GAG[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 2
Synonyms:: Charcot-Marie-Tooth, Type 2
Identifiers:: MONDO: MONDO:0018993; MedGen: C0270914

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002148693	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 12, 2021)	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

SCV002148693

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 12, 2021)

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, SCV002148693.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BSCL2-related conditions. This variant is present in population databases (rs769661232, ExAC 0.02%). This variant, c.982_984del, results in the deletion of 1 amino acid(s) of the BSCL2 protein (p.Glu328del), but otherwise preserves the integrity of the reading frame.

#	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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