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NM_004994.3(MMP9):c.958T>A (p.Tyr320Asn) AND Mendelian syndromes with cleft lip/palate

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003314742.1

Allele description [Variation Report for NM_004994.3(MMP9):c.958T>A (p.Tyr320Asn)]

NM_004994.3(MMP9):c.958T>A (p.Tyr320Asn)

Gene:
MMP9:matrix metallopeptidase 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_004994.3(MMP9):c.958T>A (p.Tyr320Asn)
HGVS:
  • NC_000020.11:g.46011708T>A
  • NG_011468.1:g.7801T>A
  • NM_004994.3:c.958T>AMANE SELECT
  • NP_004985.2:p.Tyr320Asn
  • NC_000020.10:g.44640347T>A
Protein change:
Y320N
Molecular consequence:
  • NM_004994.3:c.958T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mendelian syndromes with cleft lip/palate
Synonyms:
Orofacial clefting syndrome
Identifiers:
MedGen: C5680616

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004014638Faculty of Pharmacy, University of Ljubljana
no assertion criteria provided
Uncertain significancegermlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not providednot providednot providedresearch

Citations

PubMed

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.

Slavec L, Geršak K, Eberlinc A, Hovnik T, Lovrečić L, Mlinarič-Raščan I, Karas Kuželički N.

Int J Mol Sci. 2023 Feb 21;24(5). doi:pii: 4262. 10.3390/ijms24054262.

PubMed [citation]
PMID:
36901693
PMCID:
PMC10002089

Details of each submission

From Faculty of Pharmacy, University of Ljubljana, SCV004014638.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not provided1not provided

Last Updated: Sep 29, 2024