NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 19, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000680880.4

Allele description [Variation Report for NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)]

NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)

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.944C>T (p.Pro315Leu)
HGVS:
  • NC_000015.10:g.38351273C>T
  • NG_008980.1:g.103423C>T
  • NM_152594.3:c.944C>TMANE SELECT
  • NP_689807.1:p.Pro315Leu
  • NC_000015.9:g.38643474C>T
  • NM_152594.2:c.944C>T
Protein change:
P315L
Links:
dbSNP: rs115440602
NCBI 1000 Genomes Browser:
rs115440602
Molecular consequence:
  • NM_152594.3:c.944C>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
SCV000808329GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 19, 2021)
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, SCV000808329.2

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

Description

Identified in a patient and sibling with cafe-au-lait macules and freckling; however, a large deletion of the NF1 gene was also identified (Pacot et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22753041, 31443423)

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

Last Updated: Nov 27, 2021

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