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

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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:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001438440	Service de Génétique Moléculaire,Hôpital Robert Debré	no assertion criteria provided	Uncertain significance	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001438440

Service de Génétique Moléculaire,Hôpital Robert Debré

no assertion criteria provided

Uncertain significance

unknown

clinical testing

Summary from all submissions

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Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	1	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	1	not provided

Last Updated: Jun 3, 2023

ClinVar

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