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NM_002381.5(MATN3):c.659T>C (p.Val220Ala) AND Multiple epiphyseal dysplasia type 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000986594.1

Allele description [Variation Report for NM_002381.5(MATN3):c.659T>C (p.Val220Ala)]

NM_002381.5(MATN3):c.659T>C (p.Val220Ala)

Gene:
MATN3:matrilin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p24.1
Genomic location:
Preferred name:
NM_002381.5(MATN3):c.659T>C (p.Val220Ala)
HGVS:
  • NC_000002.12:g.20005875A>G
  • NG_008087.1:g.11820T>C
  • NM_002381.5:c.659T>CMANE SELECT
  • NP_002372.1:p.Val220Ala
  • NC_000002.11:g.20205636A>G
  • NM_002381.4:c.659T>C
Protein change:
V220A
Links:
dbSNP: rs187943382
NCBI 1000 Genomes Browser:
rs187943382
Molecular consequence:
  • NM_002381.5:c.659T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple epiphyseal dysplasia type 5 (EDM5)
Synonyms:
Multiple epiphyseal dysplasia, MATN3-related; Microepiphyseal dysplasia, bilateral hereditary
Identifiers:
MONDO: MONDO:0011765; MedGen: C1846843; Orphanet: 93311; OMIM: 607078

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001135622Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001135622.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024