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NM_152594.3(SPRED1):c.14C>G (p.Thr5Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 4, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001756850.2

Allele description [Variation Report for NM_152594.3(SPRED1):c.14C>G (p.Thr5Arg)]

NM_152594.3(SPRED1):c.14C>G (p.Thr5Arg)

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.14C>G (p.Thr5Arg)
HGVS:
  • NC_000015.10:g.38253199C>G
  • NG_008980.1:g.5349C>G
  • NM_152594.3:c.14C>GMANE SELECT
  • NP_689807.1:p.Thr5Arg
  • NC_000015.9:g.38545400C>G
  • NM_152594.2:c.14C>G
Protein change:
T5R
Links:
dbSNP: rs2140943407
NCBI 1000 Genomes Browser:
rs2140943407
Molecular consequence:
  • NM_152594.3:c.14C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001995080GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 4, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001995080.2

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

Description

Not observed in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter 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: Dec 24, 2023