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NM_058172.6(ANTXR2):c.225-4G>A AND Central core myopathy

Germline classification:
Benign (1 submission)
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:
RCV001258274.2

Allele description [Variation Report for NM_058172.6(ANTXR2):c.225-4G>A]

NM_058172.6(ANTXR2):c.225-4G>A

Gene:
ANTXR2:ANTXR cell adhesion molecule 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.21
Genomic location:
Preferred name:
NM_058172.6(ANTXR2):c.225-4G>A
HGVS:
  • NC_000004.12:g.80069511C>T
  • NG_015987.1:g.8813G>A
  • NM_001145794.2:c.225-4G>A
  • NM_001286780.2:c.-7-4G>A
  • NM_001286781.2:c.-7-4G>A
  • NM_058172.6:c.225-4G>AMANE SELECT
  • NC_000004.11:g.80990665C>T
  • NM_058172.5:c.225-4G>A
Links:
dbSNP: rs141355689
NCBI 1000 Genomes Browser:
rs141355689
Molecular consequence:
  • NM_001145794.2:c.225-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286780.2:c.-7-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286781.2:c.-7-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058172.6:c.225-4G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Central core myopathy (CMYO1A)
Synonyms:
Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001435199Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benigngermlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV001435199.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The homozygous c.225-4G>A variant in ANTXR2 has been identified in an individual with hyaline fibromatosis syndrome (PMID: 22300424), but has also been identified in >3% of European (non-Finnish) chromosomes and 12 total homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive hyaline fibromatosis syndrome.

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

Last Updated: Oct 20, 2024