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NM_002428.4(MMP15):c.1628G>A (p.Arg543Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 17, 2022
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:
RCV004181972.1

Allele description [Variation Report for NM_002428.4(MMP15):c.1628G>A (p.Arg543Gln)]

NM_002428.4(MMP15):c.1628G>A (p.Arg543Gln)

Gene:
MMP15:matrix metallopeptidase 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q21
Genomic location:
Preferred name:
NM_002428.4(MMP15):c.1628G>A (p.Arg543Gln)
HGVS:
  • NC_000016.10:g.58045064G>A
  • NM_002428.4:c.1628G>AMANE SELECT
  • NP_002419.1:p.Arg543Gln
  • NC_000016.9:g.58078968G>A
  • NM_002428.2:c.1628G>A
Protein change:
R543Q
Molecular consequence:
  • NM_002428.4:c.1628G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003677074Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 17, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003677074.2

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

Description

The c.1628G>A (p.R543Q) alteration is located in exon 10 (coding exon 10) of the MMP15 gene. This alteration results from a G to A substitution at nucleotide position 1628, causing the arginine (R) at amino acid position 543 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024