NM_152594.3(SPRED1):c.-18G>T AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 18, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000599218.1

Allele description [Variation Report for NM_152594.3(SPRED1):c.-18G>T]

NM_152594.3(SPRED1):c.-18G>T

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.-18G>T
HGVS:
  • NC_000015.10:g.38253168G>T
  • NG_008980.1:g.5318G>T
  • NM_152594.3:c.-18G>TMANE SELECT
  • NC_000015.9:g.38545369G>T
  • NM_152594.2:c.-18G>T
Links:
dbSNP: rs755489788
NCBI 1000 Genomes Browser:
rs755489788
Molecular consequence:
  • NM_152594.3:c.-18G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000710435GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 18, 2018)
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, SCV000710435.3

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

Description

The c.-18 G>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). The nucleotide substitution occurs at a position that is conserved across species. However, to our knowledge, no regulatory pathogenic variants have been reported in the SPRED1 gene. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Feb 27, 2021

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