NM_058172.6(ANTXR2):c.903dup (p.Ser302fs) AND Hyaline fibromatosis syndrome

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000677229.2

Allele description [Variation Report for NM_058172.6(ANTXR2):c.903dup (p.Ser302fs)]

NM_058172.6(ANTXR2):c.903dup (p.Ser302fs)

Gene:
ANTXR2:ANTXR cell adhesion molecule 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q21.21
Genomic location:
Preferred name:
NM_058172.6(ANTXR2):c.903dup (p.Ser302fs)
HGVS:
  • NC_000004.12:g.80018943dup
  • NG_015987.1:g.59384dup
  • NM_001145794.1:c.903dup
  • NM_001286780.2:c.672dup
  • NM_001286781.2:c.672dup
  • NM_058172.6:c.903dupMANE SELECT
  • NP_001139266.1:p.Ser302fs
  • NP_001273709.1:p.Ser225fs
  • NP_001273710.1:p.Ser225fs
  • NP_477520.2:p.Ser302fs
  • NC_000004.11:g.80940097dup
  • NM_058172.5:c.903dup
Protein change:
S225fs
Links:
dbSNP: rs1553933367
NCBI 1000 Genomes Browser:
rs1553933367
Molecular consequence:
  • NM_001145794.1:c.903dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286780.2:c.672dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286781.2:c.672dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_058172.6:c.903dup - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
protein truncation [Variation Ontology: 0015]
Observations:
1

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
SCV000611881Clinical Genetics Department,Hospital Sant Joan de Deuno assertion criteria providedPathogenicinheritedclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Moroccaninheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics Department,Hospital Sant Joan de Deu, SCV000611881.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Moroccan1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2021

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