NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 15, 2014
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:: RCV000197580.1

Allele description [Variation Report for NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)]

NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)

Genes:

COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
LOC101448202:uncharacterized LOC101448202 [Gene]

Variant type:

Duplication

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)

HGVS:

NC_000009.12:g.134835191dup
NG_008030.1:g.198386dup
NM_000093.5:c.5357dupMANE SELECT
NM_001278074.1:c.5357dup
NP_000084.3:p.Asp1787fs
NP_001265003.1:p.Asp1787fs
LRG_737t2:c.5357dup
LRG_737:g.198386dup
LRG_737p2:p.Asp1787fs
NC_000009.11:g.137727037dup
NM_000093.3:c.5357dupT
p.D1787Gfs*33

Protein change:

D1787fs

Links:

dbSNP: rs863223475

NCBI 1000 Genomes Browser:

rs863223475

Molecular consequence:

NM_000093.5:c.5357dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278074.1:c.5357dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000249894	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 15, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000249894

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 15, 2014)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000249894.5

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

Description

Although the c.5357dupT variant in the COL5A1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Aspartic acid 1787, changing it to a Glycine, and creating a premature stop codon at position 33 of the new reading frame, denoted p.Asp1787GlyfsX33. This variant is expected to result in an abnormal, truncated protein product. Numerous other frameshift mutations in the COL5A1 gene have been reported in association with classic-type EDS (Malfait F et al., 2011).In summary, c.5357dupT in the COL5A1 gene is interpreted as a pathogenic variant.

#	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: Aug 13, 2023

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