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NM_058172.6(ANTXR2):c.1287_1288del (p.Arg429fs) AND Hyaline fibromatosis syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 3, 2023
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:
RCV003140486.1

Allele description [Variation Report for NM_058172.6(ANTXR2):c.1287_1288del (p.Arg429fs)]

NM_058172.6(ANTXR2):c.1287_1288del (p.Arg429fs)

Gene:
ANTXR2:ANTXR cell adhesion molecule 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q21.21
Genomic location:
Preferred name:
NM_058172.6(ANTXR2):c.1287_1288del (p.Arg429fs)
HGVS:
  • NC_000004.12:g.79978066_79978067del
  • NG_015987.1:g.100257_100258del
  • NM_001145794.2:c.1287_1288del
  • NM_001286780.2:c.1056_1057del
  • NM_001286781.2:c.1056_1057del
  • NM_058172.6:c.1287_1288delMANE SELECT
  • NP_001139266.1:p.Arg429fs
  • NP_001273709.1:p.Arg352fs
  • NP_001273710.1:p.Arg352fs
  • NP_477520.2:p.Arg429fs
  • NC_000004.11:g.80899220_80899221del
Protein change:
R352fs
Molecular consequence:
  • NM_001145794.2:c.1287_1288del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286780.2:c.1056_1057del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286781.2:c.1056_1057del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_058172.6:c.1287_1288del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hyaline fibromatosis syndrome (HFS)
Synonyms:
HYALINOSIS, SYSTEMIC; Hyalinosis, Inherited Systemic
Identifiers:
MONDO: MONDO:0009229; MedGen: C5574677; Orphanet: 2028; OMIM: 228600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003807235Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 3, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807235.1

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

Description

ACMG classification criteria: PVS1 very strong, PM2 moderated

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024