NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000521434.3

Allele description [Variation Report for NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val)]

NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val)

Gene:
SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val)
HGVS:
  • NC_000015.10:g.38351630G>T
  • NG_008980.1:g.103780G>T
  • NM_152594.3:c.1301G>TMANE SELECT
  • NP_689807.1:p.Gly434Val
  • NC_000015.9:g.38643831G>T
  • NM_152594.2:c.1301G>T
Protein change:
G434V
Links:
dbSNP: rs746414913
NCBI 1000 Genomes Browser:
rs746414913
Molecular consequence:
  • NM_152594.3:c.1301G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000621882GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 16, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000621882.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 23, 2021

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