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NM_002880.4(RAF1):c.297C>T (p.Phe99=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 21, 2021
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:
RCV002440395.2

Allele description [Variation Report for NM_002880.4(RAF1):c.297C>T (p.Phe99=)]

NM_002880.4(RAF1):c.297C>T (p.Phe99=)

Gene:
RAF1:Raf-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.2
Genomic location:
Preferred name:
NM_002880.4(RAF1):c.297C>T (p.Phe99=)
HGVS:
  • NC_000003.12:g.12611973G>A
  • NG_007467.1:g.57207C>T
  • NM_001354689.3:c.297C>T
  • NM_001354690.3:c.297C>T
  • NM_001354691.3:c.78-2638C>T
  • NM_001354692.3:c.78-2638C>T
  • NM_001354693.3:c.297C>T
  • NM_001354694.3:c.78-2638C>T
  • NM_001354695.3:c.78-2638C>T
  • NM_002880.4:c.297C>TMANE SELECT
  • NP_001341618.1:p.Phe99=
  • NP_001341619.1:p.Phe99=
  • NP_001341622.1:p.Phe99=
  • NP_002871.1:p.Phe99=
  • NP_002871.1:p.Phe99=
  • LRG_413t1:c.297C>T
  • LRG_413t2:c.297C>T
  • LRG_413:g.57207C>T
  • LRG_413p1:p.Phe99=
  • LRG_413p2:p.Phe99=
  • NC_000003.11:g.12653472G>A
  • NM_002880.3:c.297C>T
  • NR_148940.3:n.628C>T
  • NR_148941.3:n.628C>T
  • NR_148942.3:n.628C>T
Links:
dbSNP: rs376509458
NCBI 1000 Genomes Browser:
rs376509458
Molecular consequence:
  • NM_001354691.3:c.78-2638C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354692.3:c.78-2638C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354694.3:c.78-2638C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354695.3:c.78-2638C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148940.3:n.628C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.628C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.628C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001354689.3:c.297C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354690.3:c.297C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354693.3:c.297C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002880.4:c.297C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002751385Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 21, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002751385.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025