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_001354689.3(RAF1):c.321-14dup

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Dec 11, 2020)
Last evaluated:
Jul 2, 2020
Accession:
VCV000044625.6
Variation ID:
44625
Description:
1bp duplication
Help

NM_001354689.3(RAF1):c.321-14dup

Allele ID
53792
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3p25.2
Genomic location
3: 12609348-12609349 (GRCh38) GRCh38 UCSC
3: 12650847-12650848 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_002880.3:c.321-14dupT
NC_000003.11:g.12650855dup
NC_000003.12:g.12609356dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:12609348:AAAAAAAA:AAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
0.01877 (AAAAAAAAA)

Allele frequency
-
Links
ClinGen: CA134727
dbSNP: rs202103447
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Aug 19, 2019 RCV000037688.9
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000317920.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000388216.2
Benign 1 criteria provided, single submitter May 31, 2018 RCV000680305.1
Benign 1 criteria provided, single submitter Jul 2, 2020 RCV001281882.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RAF1 No evidence available No evidence available GRCh38
GRCh37
566 619

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 02, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001159608.2
Submitted: (Dec 11, 2020)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000309262.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
LEOPARD Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000440632.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Noonan Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000440631.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(May 31, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000209005.4
Submitted: (Sep 14, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Mar 21, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061350.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
c.321-14_321-13insT in intron 3 of RAF1: This variant is not expected to have cl inical significance because it has been identified in 6.7% (573/8544) of … (more)
Benign
(Aug 19, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362801.1
Submitted: (Mar 06, 2020)
Evidence details
Comment:
Variant summary: RAF1 c.321-14dupT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)

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 rs202103447...

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 Oct 24, 2021