NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND Neuronopathy, distal hereditary motor, type 5A

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 9, 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:: RCV000004802.18

Allele description [Variation Report for NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)]

NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

Preferred name:

NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)

Other names:

NM_001122955.3(BSCL2):c.455A>G(p.Asn152Ser); NM_001130702.2(BSCL2):c.263A>G(p.Asn88Ser); NM_032667.6(BSCL2):c.263A>G(p.Asn88Ser)

HGVS:

NC_000011.10:g.62702499T>C
NG_008461.1:g.12076A>G
NM_001122955.4:c.455A>GMANE SELECT
NM_001130702.2:c.263A>G
NM_001386027.1:c.455A>G
NM_001386028.1:c.455A>G
NM_032667.6:c.263A>G
NP_001116427.1:p.Asn152Ser
NP_001116427.1:p.Asn152Ser
NP_001124174.2:p.Asn88Ser
NP_001372956.1:p.Asn152Ser
NP_001372957.1:p.Asn152Ser
NP_116056.3:p.Asn88Ser
LRG_235t1:c.455A>G
LRG_235t2:c.263A>G
LRG_235:g.12076A>G
LRG_235p1:p.Asn152Ser
LRG_235p2:p.Asn88Ser
NC_000011.9:g.62469971T>C
NM_001122955.2:c.455A>G
NM_001122955.3:c.455A>G
NM_001122955.4:c.455A>G
NM_032667.5:c.263A>G
NR_037946.1:n.2975A>G
Q96G97:p.Asn88Ser

Protein change:

N152S; ASN88SER

Links:

UniProtKB: Q96G97#VAR_022375; OMIM: 606158.0013; dbSNP: rs137852972

NCBI 1000 Genomes Browser:

rs137852972

Molecular consequence:

NM_001122955.4:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130702.2:c.263A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386027.1:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386028.1:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032667.6:c.263A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_037946.1:n.2975A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Neuronopathy, distal hereditary motor, type 5A (HMND5)
Synonyms:: DHMN VA; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5; Distal Spinal Muscular Atrophy V
Identifiers:: MONDO: MONDO:0015353; MedGen: CN031873; Orphanet: 139536; OMIM: 600794

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000188719	Northcott Neuroscience Laboratory, ANZAC Research Institute	no assertion criteria provided	pathogenic	germline	not provided
SCV000966217	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 9, 2018)	paternal	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

SCV000188719

Northcott Neuroscience Laboratory, ANZAC Research Institute

no assertion criteria provided

pathogenic

germline

not provided

SCV000966217

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 9, 2018)

paternal

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	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Northcott Neuroscience Laboratory, ANZAC Research Institute, SCV000188719.1

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

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000966217.1

#	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	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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