NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp) AND Hyaline fibromatosis syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2015)

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:
RCV000256477.1

Allele description [Variation Report for NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp)]

NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp)

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.1148G>A (p.Gly383Asp)
HGVS:
  • NC_000004.12:g.79983909C>T
  • NG_015987.1:g.94415G>A
  • NM_001145794.1:c.1148G>A
  • NM_001286780.2:c.917G>A
  • NM_001286781.2:c.917G>A
  • NM_058172.6:c.1148G>AMANE SELECT
  • NP_001139266.1:p.Gly383Asp
  • NP_001273709.1:p.Gly306Asp
  • NP_001273710.1:p.Gly306Asp
  • NP_477520.2:p.Gly383Asp
  • NC_000004.11:g.80905063C>T
  • NM_058172.5:c.1148G>A
Protein change:
G306D
Links:
dbSNP: rs886039907
NCBI 1000 Genomes Browser:
rs886039907
Molecular consequence:
  • NM_001145794.1:c.1148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286780.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286781.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058172.6:c.1148G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000323248Diagnostics Division,Centre for DNA Fingerprinting and Diagnosticsno assertion criteria providedLikely pathogenic
(Jan 1, 2015)
unknownresearch

Description

Missense variant

SCV000323248

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Details of each submission

From Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics, SCV000323248.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch
(GTR000526113.1)
not provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not provideddiscovery
(GTR000526113.1)
1not providednot providednot provided

Last Updated: Oct 7, 2021

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