NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) AND Noonan syndrome

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001261039.1

Allele description [Variation Report for NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)]

NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)

Gene:
SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)
HGVS:
  • NC_000015.10:g.38351554_38351555delinsTT
  • NG_008980.1:g.103704_103705delinsTT
  • NM_152594.3:c.1225_1226delinsTTMANE SELECT
  • NP_689807.1:p.Ala409Phe
  • NC_000015.9:g.38643755_38643756delinsTT
  • NM_152594.2:c.1225_1226delGCinsTT
  • NM_152594.2:c.1225_1226delinsTT
Protein change:
A409F
Links:
Molecular consequence:
  • NM_152594.3:c.1225_1226delinsTT - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Noonan syndrome (NS)
Synonyms:
Noonan's syndrome; Pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0018997; MeSH: D009634; MedGen: C0028326; OMIM: PS163950

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438440Service de Génétique Moléculaire,Hôpital Robert Debréno assertion criteria providedUncertain significanceunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire,Hôpital Robert Debré, SCV001438440.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Nov 27, 2021

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