NM_033360.4(KRAS):c.*101_*106del AND Noonan syndrome

NM_033360.4(KRAS):c.101_106del AND Noonan syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 22, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000761136.4

Allele description [Variation Report for NM_033360.4(KRAS):c.101_106del]

NM_033360.4(KRAS):c.101_106del

Gene:

KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_033360.4(KRAS):c.*101_*106del

HGVS:

NC_000012.12:g.25209815_25209820del
NG_007524.2:g.46189_46194del
NM_001369786.1:c.*101_*106del
NM_001369787.1:c.547_552del
NM_004985.5:c.547_552delMANE SELECT
NM_033360.4:c.*101_*106del
NP_001356716.1:p.Thr183_Lys184del
NP_004976.2:p.Thr183_Lys184del
LRG_344t1:c.547_552del
LRG_344t2:c.*101_*106del
LRG_344:g.46189_46194del
LRG_344p1:p.Thr183_Lys184del
NC_000012.11:g.25362744_25362749del
NC_000012.11:g.25362749_25362754del
NG_007524.1:g.46106_46111del
NM_004985.4:c.547_552delACAAAG

Links:

dbSNP: rs1339924833

NCBI 1000 Genomes Browser:

rs1339924833

Molecular consequence:

NM_001369786.1:c.*101_*106del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_033360.4:c.*101_*106del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369787.1:c.547_552del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004985.5:c.547_552del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000891052	St. Jude Molecular Pathology, St. Jude Children's Research Hospital	criteria provided, single submitter (St. Jude Assertion Criteria 2020)	Uncertain significance (Sep 22, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000891052

St. Jude Molecular Pathology, St. Jude Children's Research Hospital

criteria provided, single submitter

(St. Jude Assertion Criteria 2020)

Uncertain significance
(Sep 22, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV000891052.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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