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NM_032208.3(ANTXR1):c.1435-12A>G AND ANTXR1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 6, 2022
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:
RCV003390738.5

Allele description [Variation Report for NM_032208.3(ANTXR1):c.1435-12A>G]

NM_032208.3(ANTXR1):c.1435-12A>G

Gene:
ANTXR1:ANTXR cell adhesion molecule 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.3
Genomic location:
Preferred name:
NM_032208.3(ANTXR1):c.1435-12A>G
HGVS:
  • NC_000002.12:g.69245213A>G
  • NG_012649.1:g.237070A>G
  • NM_032208.3:c.1435-12A>GMANE SELECT
  • NC_000002.11:g.69472345A>G
  • NM_032208.2:c.1435-12A>G
Nucleotide change:
IVS19, A-G, -12
Links:
OMIM: 606410.0004; dbSNP: rs879255533
NCBI 1000 Genomes Browser:
rs879255533
Molecular consequence:
  • NM_032208.3:c.1435-12A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
ANTXR1-related disorder
Synonyms:
ANTXR1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004121674PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 6, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot 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 PreventionGenetics, part of Exact Sciences, SCV004121674.1

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

Description

The ANTXR1 c.1435-12A>G variant is predicted to interfere with splicing. This variant was reported in the homozygous state in an individual with autosomal recessive GAPO syndrome (Stránecký et al. 2013. PubMed ID: 23602711). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant could be pathogenic for ANTXR1-related autosomal recessive disease, at this time, the clinical significance of this variant is uncertain due to insufficient functional and genetic evidence. The clinical significance of this variant in relation to autosomal dominant susceptibility to infantile capillary hemangioma is uncertain.

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

Last Updated: Jun 23, 2024