NM_152594.3(SPRED1):c.306G>A (p.Thr102=) AND not specified

Clinical significance:Likely benign (Last evaluated: Sep 20, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001192641.1

Allele description [Variation Report for NM_152594.3(SPRED1):c.306G>A (p.Thr102=)]

NM_152594.3(SPRED1):c.306G>A (p.Thr102=)

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.306G>A (p.Thr102=)
HGVS:
  • NC_000015.10:g.38322339G>A
  • NG_008980.1:g.74489G>A
  • NM_152594.3:c.306G>AMANE SELECT
  • NP_689807.1:p.Thr102=
  • NC_000015.9:g.38614540G>A
  • NM_152594.2:c.306G>A
Links:
dbSNP: rs372791883
NCBI 1000 Genomes Browser:
rs372791883
Molecular consequence:
  • NM_152594.3:c.306G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001360895Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Sep 20, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001360895.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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