NM_033360.4(KRAS):c.*4187del AND Cardio-facio-cutaneous syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000289416.5

Allele description [Variation Report for NM_033360.4(KRAS):c.*4187del]

NM_033360.4(KRAS):c.*4187del

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.*4187del

HGVS:

NC_000012.12:g.25205736del
NG_007524.2:g.50275del
NM_001369786.1:c.*4187del
NM_001369787.1:c.*4066del
NM_004985.5:c.*4066delMANE SELECT
NM_033360.4:c.*4187del
LRG_344t1:c.*4066del
LRG_344t2:c.*4187del
LRG_344:g.50275del
NC_000012.11:g.25358670del
NG_007524.1:g.50192del
NM_004985.3:c.*4066delA

Links:

dbSNP: rs34719539

NCBI 1000 Genomes Browser:

rs34719539

Molecular consequence:

NM_001369786.1:c.*4187del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369787.1:c.*4066del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004985.5:c.*4066del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_033360.4:c.*4187del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Cardio-facio-cutaneous syndrome
Synonyms:: Cardiofaciocutaneous syndrome; CFC syndrome
Identifiers:: MONDO: MONDO:0015280; MedGen: C1275081; Orphanet: 1340; OMIM: PS115150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000377615	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000377615

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000377615.2

#	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 20, 2024

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