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NM_001354689.3(RAF1):c.220A>G (p.Asn74Asp)

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Interpretation:
Likely benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 26, 2020)
Accession:
VCV000981538.1
Variation ID:
981538
Description:
single nucleotide variant
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NM_001354689.3(RAF1):c.220A>G (p.Asn74Asp)

Allele ID
969655
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.2
Genomic location
3: 12612050 (GRCh38) GRCh38 UCSC
3: 12653549 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_413:g.57130A>G
LRG_413t2:c.220A>G LRG_413p2:p.Asn74Asp
LRG_413t1:c.220A>G
... more HGVS
Protein change
N74D
Other names
-
Canonical SPDI
NC_000003.12:12612049:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 no assertion criteria provided - RCV001261026.1
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Noonan syndrome
Allele origin: maternal
Service de Génétique Moléculaire,Hôpital Robert Debré
Accession: SCV001438424.1
Submitted: (Mar 26, 2020)
Evidence details

Functional evidence

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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

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

Record last updated Oct 08, 2021