NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) AND none provided

Clinical significance:Likely benign (Last evaluated: Apr 24, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001285286.2

Allele description [Variation Report for NM_000557.5(GDF5):c.349G>T (p.Ala117Ser)]

NM_000557.5(GDF5):c.349G>T (p.Ala117Ser)

Gene:
GDF5:growth differentiation factor 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.22
Genomic location:
Preferred name:
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser)
HGVS:
  • NC_000020.11:g.35437580C>A
  • NG_008076.3:g.22167G>T
  • NM_000557.5:c.349G>TMANE SELECT
  • NM_001319138.2:c.349G>T
  • NP_000548.2:p.Ala117Ser
  • NP_001306067.1:p.Ala117Ser
  • NC_000020.10:g.34025360C>A
  • NM_000557.2:c.349G>T
  • NM_000557.4:c.349G>T
Protein change:
A117S
Links:
dbSNP: rs151149144
NCBI 1000 Genomes Browser:
rs151149144
Molecular consequence:
  • NM_000557.5:c.349G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319138.2:c.349G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001471693ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Apr 24, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471693.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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