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NM_002381.5(MATN3):c.733G>A (p.Val245Met) AND Multiple epiphyseal dysplasia type 5

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001142259.4

Allele description [Variation Report for NM_002381.5(MATN3):c.733G>A (p.Val245Met)]

NM_002381.5(MATN3):c.733G>A (p.Val245Met)

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.733G>A (p.Val245Met)
HGVS:
  • NC_000002.12:g.20005801C>T
  • NG_008087.1:g.11894G>A
  • NM_002381.5:c.733G>AMANE SELECT
  • NP_002372.1:p.Val245Met
  • NC_000002.11:g.20205562C>T
  • NC_000002.11:g.20205562C>T
  • NM_002381.4:c.733G>A
Protein change:
V245M
Links:
dbSNP: rs182164052
NCBI 1000 Genomes Browser:
rs182164052
Molecular consequence:
  • NM_002381.5:c.733G>A - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001302679Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD.

Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.

PubMed [citation]
PMID:
21922596
PMCID:
PMC3272220

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001302679.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Sep 29, 2024