NM_022834.5(VWA1):c.62_71del (p.Gly21fs) AND Neuromuscular disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV001839415.10

Allele description [Variation Report for NM_022834.5(VWA1):c.62_71del (p.Gly21fs)]

NM_022834.5(VWA1):c.62_71del (p.Gly21fs)

Gene:

VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1p36.33

Genomic location:

Preferred name:

NM_022834.5(VWA1):c.62_71del (p.Gly21fs)

HGVS:

NC_000001.11:g.1435800GCGCGGAGCG[1]
NC_000001.11:g.1435800_1435809GCGCGGAGCG[1]
NM_022834.5:c.62_71delMANE SELECT
NM_199121.3:c.62_71del
NP_073745.2:p.Gly21fs
NP_954572.2:p.Gly21fs
NC_000001.10:g.1371180GCGCGGAGCG[1]
NM_022834.4:c.62_71del

Protein change:

G21fs

Links:

OMIM: 611901.0005; dbSNP: rs749383814

NCBI 1000 Genomes Browser:

rs749383814

Molecular consequence:

NM_022834.5:c.62_71del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_199121.3:c.62_71del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Neuromuscular disease
Synonyms:: Neuromuscular Diseases; Neuromuscular disorder; Neuromyopathy
Identifiers:: MONDO: MONDO:0019056; MeSH: D009468; MedGen: C0027868

Recent activity

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disease resistance protein RPS2-like [Cucurbita pepo subsp. pepo]
disease resistance protein RPS2-like [Cucurbita pepo subsp. pepo]
gi|1333144298|ref|XP_023546944.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001190594	Section for Clinical Neurogenetics, University of Tübingen	no assertion criteria provided	Likely pathogenic (Jan 1, 2020)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001190594

Section for Clinical Neurogenetics, University of Tübingen

no assertion criteria provided

Likely pathogenic
(Jan 1, 2020)

germline

research

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	research

Details of each submission

From Section for Clinical Neurogenetics, University of Tübingen, SCV001190594.1

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

#	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: Oct 8, 2024

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