NM_058172.6(ANTXR2):c.1069del (p.Ala357fs) AND Hyaline fibromatosis syndrome

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001261564.1

Allele description [Variation Report for NM_058172.6(ANTXR2):c.1069del (p.Ala357fs)]

NM_058172.6(ANTXR2):c.1069del (p.Ala357fs)

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.1069del (p.Ala357fs)
HGVS:
  • NC_000004.12:g.79984836del
  • NG_015987.1:g.93488del
  • NM_001145794.2:c.1069del
  • NM_001286780.2:c.838del
  • NM_001286781.2:c.838del
  • NM_058172.6:c.1069delMANE SELECT
  • NP_001139266.1:p.Ala357fs
  • NP_001273709.1:p.Ala280fs
  • NP_001273710.1:p.Ala280fs
  • NP_477520.2:p.Ala357fs
  • NC_000004.11:g.80905990del
  • NM_058172.5:c.1069delG
Protein change:
A280fs
Molecular consequence:
  • NM_001145794.2:c.1069del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286780.2:c.838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286781.2:c.838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_058172.6:c.1069del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
4

Condition(s)

Name:
Hyaline fibromatosis syndrome (HFS)
Synonyms:
HYALINOSIS, SYSTEMIC; Hyalinosis, Inherited Systemic
Identifiers:
MONDO: MONDO:0009229; MedGen: C2745948; Orphanet: 2028; OMIM: 228600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438830Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes4not providednot providednot providednot providedclinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV001438830.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Oct 7, 2021

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