NM_002427.4(MMP13):c.1372del (p.Arg458fs) AND MMP13-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 30, 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:: RCV000778296.4

Allele description [Variation Report for NM_002427.4(MMP13):c.1372del (p.Arg458fs)]

NM_002427.4(MMP13):c.1372del (p.Arg458fs)

Gene:

MMP13:matrix metallopeptidase 13 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q22.2

Genomic location:

Preferred name:

NM_002427.4(MMP13):c.1372del (p.Arg458fs)

HGVS:

NC_000011.10:g.102944311del
NG_021404.1:g.16425del
NM_002427.4:c.1372delMANE SELECT
NP_002418.1:p.Arg458fs
NC_000011.9:g.102815040del
NM_002427.3:c.1372delC

Protein change:

R458fs

Links:

dbSNP: rs782085134

NCBI 1000 Genomes Browser:

rs782085134

Molecular consequence:

NM_002427.4:c.1372del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: MMP13-related disorder
Synonyms:: MMP13-Related Disorders; MMP13-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000914475	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 09 May 2019)	Uncertain significance (Jan 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000914475

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)

Uncertain significance
(Jan 30, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000914475.1

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

Description

The MMP13 c.1372delC (p.Arg458ValfsTer31) variant results in a frameshift, and is predicted to result in elongation of the protein. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Based on the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance, but suspicious for pathogenicity for MMP13-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: May 12, 2024

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