Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_033360.4(KRAS):c.*3803_*3804dup

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000308069.2
Variation ID:
308069
Description:
2bp duplication
Help

NM_033360.4(KRAS):c.*3803_*3804dup

Allele ID
331620
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
12p12.1
Genomic location
12: 25206111-25206112 (GRCh38) GRCh38 UCSC
12: 25359045-25359046 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_344t2:c.*3803_*3804dup
LRG_344t1:c.*3682_*3683dup
NC_000012.11:g.25359054_25359055dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:25206111:AAAAAAAAAA:AAAAAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
0.09605 (AAAAAAAAAAA)

Allele frequency
-
Links
ClinGen: CA10641642
dbSNP: rs142323886
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000325997.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000363296.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KRAS No evidence available No evidence available GRCh38
GRCh37
298 329

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Noonan Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000377631.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiofaciocutaneous Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000377630.2
Submitted: (Oct 18, 2016)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs142323886...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021