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NM_002422.5(MMP3):c.970C>T (p.Pro324Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 9, 2023
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:
RCV004320996.1

Allele description [Variation Report for NM_002422.5(MMP3):c.970C>T (p.Pro324Ser)]

NM_002422.5(MMP3):c.970C>T (p.Pro324Ser)

Gene:
MMP3:matrix metallopeptidase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.2
Genomic location:
Preferred name:
NM_002422.5(MMP3):c.970C>T (p.Pro324Ser)
HGVS:
  • NC_000011.10:g.102839209G>A
  • NG_012100.1:g.9403C>T
  • NM_002422.5:c.970C>TMANE SELECT
  • NP_002413.1:p.Pro324Ser
  • NC_000011.9:g.102709940G>A
  • NM_002422.3:c.970C>T
Protein change:
P324S
Molecular consequence:
  • NM_002422.5:c.970C>T - 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
SCV003977942Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 9, 2023) 		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, SCV003977942.2

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

Description

The c.970C>T (p.P324S) alteration is located in exon 7 (coding exon 7) of the MMP3 gene. This alteration results from a C to T substitution at nucleotide position 970, causing the proline (P) at amino acid position 324 to be replaced by a serine (S). 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