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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000914475Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)
Uncertain significance
(Jan 30, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000914475.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024