NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) AND Charcot-Marie-Tooth disease

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001173629.1

Allele description [Variation Report for NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)]

NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)

Gene:

LRSAM1:leucine rich repeat and sterile alpha motif containing 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)

Other names:

p.Glu674Argfs*83

HGVS:

NC_000009.12:g.127501116dup
NG_032008.1:g.54631dup
NM_001005373.4:c.2019dupMANE SELECT
NM_001005374.4:c.2019dup
NM_001190723.3:c.1938dup
NM_001384142.1:c.2019dup
NM_001384143.1:c.1920dup
NM_001384144.1:c.1230dup
NM_138361.5:c.2019dup
NP_001005373.1:p.Glu674fs
NP_001005374.1:p.Glu674fs
NP_001177652.1:p.Glu647fs
NP_001371071.1:p.Glu674fs
NP_001371072.1:p.Glu641fs
NP_001371073.1:p.Glu411fs
NP_612370.3:p.Glu674fs
LRG_373t1:c.2019dup
LRG_373:g.54631dup
LRG_373p1:p.Glu674fs
NC_000009.11:g.130263394_130263395insA
NC_000009.11:g.130263395dup
NM_138361.4:c.2019dupA
NM_138361.5:c.2019dupA
NR_168891.1:n.2548dup
NR_168892.1:n.2372dup

Protein change:

E411fs

Links:

dbSNP: rs1315010600

NCBI 1000 Genomes Browser:

rs1315010600

Molecular consequence:

NM_001005373.4:c.2019dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001005374.4:c.2019dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001190723.3:c.1938dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001384142.1:c.2019dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001384143.1:c.1920dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001384144.1:c.1230dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138361.5:c.2019dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_168891.1:n.2548dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168892.1:n.2372dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001336731	Molecular Genetics Laboratory, London Health Sciences Centre	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	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

SCV001336731

Molecular Genetics Laboratory, London Health Sciences Centre

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

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	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 Molecular Genetics Laboratory, London Health Sciences Centre, SCV001336731.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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