NM_004287.5(GOSR2):c.22dup (p.Thr8fs) AND Muscular dystrophy

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000509134.1

Allele description [Variation Report for NM_004287.5(GOSR2):c.22dup (p.Thr8fs)]

NM_004287.5(GOSR2):c.22dup (p.Thr8fs)

Genes:

GOSR2:golgi SNAP receptor complex member 2 [Gene - OMIM - HGNC]
LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.32

Genomic location:

Preferred name:

NM_004287.5(GOSR2):c.22dup (p.Thr8fs)

Other names:

p.Thr8Asnfs*54

HGVS:

NC_000017.11:g.46923214dup
NG_031806.2:g.5095dup
NM_001012511.3:c.22dup
NM_001321133.2:c.22dup
NM_001321134.2:c.-81dup
NM_001330252.2:c.22dup
NM_001353114.2:c.22dup
NM_001353115.2:c.22dup
NM_001353116.2:c.22dup
NM_001363851.2:c.-444dup
NM_004287.4:c.22dupA
NM_004287.5:c.22dupMANE SELECT
NM_004287.5:c.22dup
NM_054022.4:c.22dup
NP_001012529.1:p.Thr8fs
NP_001308062.1:p.Thr8fs
NP_001317181.1:p.Thr8fs
NP_001340043.1:p.Thr8fs
NP_001340044.1:p.Thr8fs
NP_001340045.1:p.Thr8fs
NP_004278.2:p.Thr8fs
NP_473363.1:p.Thr8fs
NC_000017.10:g.45000577_45000578insA
NC_000017.10:g.45000580dup
NM_004287.3:c.22dupA
NM_004287.4:c.22dup
NR_148349.2:n.55dup
NR_148350.2:n.55dup
NR_148351.2:n.55dup

Protein change:

T8fs

Links:

dbSNP: rs746855352

NCBI 1000 Genomes Browser:

rs746855352

Molecular consequence:

NM_001321134.2:c.-81dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001363851.2:c.-444dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001012511.3:c.22dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001321133.2:c.22dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330252.2:c.22dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353114.2:c.22dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353115.2:c.22dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353116.2:c.22dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004287.5:c.22dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_054022.4:c.22dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_148349.2:n.55dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148350.2:n.55dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148351.2:n.55dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Muscular dystrophy
Identifiers:: MONDO: MONDO:0020121; MeSH: D009136; MedGen: C0026850; Human Phenotype Ontology: HP:0003560

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000607039	GenomeConnect, ClinGen	no classification provided	not provided	maternal	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000607039

GenomeConnect, ClinGen

no classification provided

not provided

maternal

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	unknown	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607039.1

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

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Mar 16, 2024

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