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NM_002381.5(MATN3):c.284G>A (p.Arg95Gln) AND Multiple epiphyseal dysplasia type 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 9, 2021
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:
RCV001799553.3

Allele description [Variation Report for NM_002381.5(MATN3):c.284G>A (p.Arg95Gln)]

NM_002381.5(MATN3):c.284G>A (p.Arg95Gln)

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.284G>A (p.Arg95Gln)
HGVS:
  • NC_000002.12:g.20006250C>T
  • NG_008087.1:g.11445G>A
  • NM_002381.5:c.284G>AMANE SELECT
  • NP_002372.1:p.Arg95Gln
  • NC_000002.11:g.20206011C>T
Protein change:
R95Q
Links:
dbSNP: rs755692495
NCBI 1000 Genomes Browser:
rs755692495
Molecular consequence:
  • NM_002381.5:c.284G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV002043762Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 9, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology, SCV002043762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.284G>A variant is not present in publicly available population databases like 1000 Genomes and Exome Variant Server (EVS). The heterozygous state of the variant is present in Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency. The variant is not present in Indian Exome Database and in our in-house exome database. The variant was not earlier reported to ClinVar, Human Genome Mutation Database (HGMD) or OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like PolyPhen-2, MutationTaster2, CADD, Varsome etc. predicted this variant to be likely deleterious but these predictions have not been confirmed by published functional studies.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot provideddiscovery1not provided1not provided

Last Updated: Dec 24, 2023