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NM_004530.6(MMP2):c.1339G>T (p.Ala447Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 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:
RCV002738747.2

Allele description [Variation Report for NM_004530.6(MMP2):c.1339G>T (p.Ala447Ser)]

NM_004530.6(MMP2):c.1339G>T (p.Ala447Ser)

Gene:
MMP2:matrix metallopeptidase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.2
Genomic location:
Preferred name:
NM_004530.6(MMP2):c.1339G>T (p.Ala447Ser)
HGVS:
  • NC_000016.10:g.55493160G>T
  • NG_008989.1:g.18992G>T
  • NM_001127891.3:c.1189G>T
  • NM_001302508.1:c.1111G>T
  • NM_001302509.2:c.1111G>T
  • NM_001302510.2:c.1111G>T
  • NM_004530.6:c.1339G>TMANE SELECT
  • NP_001121363.1:p.Ala397Ser
  • NP_001289437.1:p.Ala371Ser
  • NP_001289438.1:p.Ala371Ser
  • NP_001289439.1:p.Ala371Ser
  • NP_004521.1:p.Ala447Ser
  • NC_000016.9:g.55527072G>T
  • NM_004530.4:c.1339G>T
Protein change:
A371S
Molecular consequence:
  • NM_001127891.3:c.1189G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302508.1:c.1111G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302509.2:c.1111G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302510.2:c.1111G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004530.6:c.1339G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003740074Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 25, 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, SCV003740074.2

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

Description

The c.1339G>T (p.A447S) alteration is located in exon 9 (coding exon 9) of the MMP2 gene. This alteration results from a G to T substitution at nucleotide position 1339, causing the alanine (A) at amino acid position 447 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: May 1, 2024