U.S. flag

An official website of the United States government

NM_015419.4(MXRA5):c.7986_8003delinsTGCAGCTGGGCAGGGACA (p.Gly2663_Arg2668delinsAlaAlaGlyGlnGlyHis) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000845016.1

Allele description [Variation Report for NM_015419.4(MXRA5):c.7986_8003delinsTGCAGCTGGGCAGGGACA (p.Gly2663_Arg2668delinsAlaAlaGlyGlnGlyHis)]

NM_015419.4(MXRA5):c.7986_8003delinsTGCAGCTGGGCAGGGACA (p.Gly2663_Arg2668delinsAlaAlaGlyGlnGlyHis)

Gene:
MXRA5:matrix remodeling associated 5 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
Xp22.33
Genomic location:
Preferred name:
NM_015419.4(MXRA5):c.7986_8003delinsTGCAGCTGGGCAGGGACA (p.Gly2663_Arg2668delinsAlaAlaGlyGlnGlyHis)
HGVS:
  • NC_000023.11:g.3310200_3310217delinsTGTCCCTGCCCAGCTGCA
  • NG_021336.1:g.41427_41444delinsTGCAGCTGGGCAGGGACA
  • NM_015419.4:c.7986_8003delinsTGCAGCTGGGCAGGGACAMANE SELECT
  • NP_056234.2:p.Gly2663_Arg2668delinsAlaAlaGlyGlnGlyHis
  • NC_000023.10:g.3228241_3228258delinsTGTCCCTGCCCAGCTGCA
  • NM_015419.3:c.7986_8003delCGGGGCTGGGCAGGGACGinsTGCAGCTGGGCAGGGACA
Links:
dbSNP: rs1603467724
NCBI 1000 Genomes Browser:
rs1603467724
Molecular consequence:
  • NM_015419.4:c.7986_8003delinsTGCAGCTGGGCAGGGACA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986848GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986848.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 06/15/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Apr 23, 2022