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NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001249315.2

Allele description [Variation Report for NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)]

NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)

Gene:
FBLN5:fibulin 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.12
Genomic location:
Preferred name:
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)
HGVS:
  • NC_000014.9:g.91937058C>T
  • NG_008254.1:g.15645G>A
  • NM_001384158.1:c.391G>A
  • NM_001384159.1:c.319G>A
  • NM_001384160.1:c.268G>A
  • NM_001384161.1:c.100G>A
  • NM_001384162.1:c.100G>A
  • NM_006329.4:c.268G>AMANE SELECT
  • NP_001371087.1:p.Gly131Ser
  • NP_001371088.1:p.Gly107Ser
  • NP_001371089.1:p.Gly90Ser
  • NP_001371090.1:p.Gly34Ser
  • NP_001371091.1:p.Gly34Ser
  • NP_006320.2:p.Gly90Ser
  • NP_006320.2:p.Gly90Ser
  • LRG_364t1:c.268G>A
  • LRG_364:g.15645G>A
  • LRG_364p1:p.Gly90Ser
  • NC_000014.8:g.92403402C>T
  • NM_006329.3:c.268G>A
  • Q9UBX5:p.Gly90Ser
Protein change:
G107S; GLY90SER
Links:
UniProtKB: Q9UBX5#VAR_076290; OMIM: 604580.0013; dbSNP: rs144288844
NCBI 1000 Genomes Browser:
rs144288844
Molecular consequence:
  • NM_001384158.1:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384159.1:c.319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384160.1:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384161.1:c.100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384162.1:c.100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006329.4:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cutis laxa, autosomal recessive, type 1A (ARCL1A)
Synonyms:
Autosomal recessive cutis laxa type IA
Identifiers:
MONDO: MONDO:0009052; MedGen: C0268351; Orphanet: 90349; OMIM: 219100
Name:
Cutis laxa, autosomal dominant 2 (ADCL2)
Identifiers:
MONDO: MONDO:0013751; MedGen: C3280794; Orphanet: 90348; OMIM: 614434

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423279GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001423279.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 10-29-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: May 12, 2024