NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del) AND Noonan syndrome

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001261089.2

Allele description [Variation Report for NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)]

NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)

Gene:

SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p22.1

Genomic location:

Preferred name:

NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)

HGVS:

NC_000002.12:g.39022715_39022720del
NG_007530.1:g.102744_102749del
NM_001382394.1:c.1687_1692del
NM_001382395.1:c.1708_1713del
NM_005633.4:c.1708_1713delMANE SELECT
NP_001369323.1:p.Pro563_Ser564del
NP_001369324.1:p.Pro570_Ser571del
NP_005624.2:p.Pro570_Ser571del
LRG_754t1:c.1708_1713del
LRG_754:g.102744_102749del
NC_000002.11:g.39249856_39249861del
NM_005633.3:c.1708_1713delCCTAGT

Links:

Molecular consequence:

NM_001382394.1:c.1687_1692del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382395.1:c.1708_1713del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_005633.4:c.1708_1713del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV001438491	Service de Génétique Moléculaire, Hôpital Robert Debré	no assertion criteria provided	Likely pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001438491

Service de Génétique Moléculaire, Hôpital Robert Debré

no assertion criteria provided

Likely pathogenic

de novo

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001438491.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	1	not provided

Last Updated: Jun 23, 2024

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