NM_152594.3(SPRED1):c.196A>C (p.Arg66=) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000520815.1

Allele description [Variation Report for NM_152594.3(SPRED1):c.196A>C (p.Arg66=)]

NM_152594.3(SPRED1):c.196A>C (p.Arg66=)

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.196A>C (p.Arg66=)
HGVS:
  • NC_000015.10:g.38299536A>C
  • NG_008980.1:g.51686A>C
  • NM_152594.3:c.196A>CMANE SELECT
  • NP_689807.1:p.Arg66=
  • NC_000015.9:g.38591737A>C
  • NM_152594.2:c.196A>C
Links:
dbSNP: rs751923342
NCBI 1000 Genomes Browser:
rs751923342
Molecular consequence:
  • NM_152594.3:c.196A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000619692GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 31, 2017)
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, SCV000619692.3

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

Description

The c.196 A>C (R66=) variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 1/11492 (0.0087%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). c.196 A>C is a synonymous variant, and in silico analysis predicts this variant likely does not alter gene splicing. However, this variant occurs at a position that is conserved across species. In summary, 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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