NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 22, 2023
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:: RCV002458622.2

Allele description [Variation Report for NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr)]

NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr)

Gene:

RIT1:Ras like without CAAX 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr)

HGVS:

NC_000001.11:g.155904399A>T
NG_033885.1:g.12004T>A
NM_001256820.2:c.233T>A
NM_001256821.2:c.392T>A
NM_006912.6:c.341T>AMANE SELECT
NP_001243749.1:p.Phe78Tyr
NP_001243750.1:p.Phe131Tyr
NP_008843.1:p.Phe114Tyr
LRG_1372t1:c.341T>A
LRG_1372:g.12004T>A
LRG_1372p1:p.Phe114Tyr
NC_000001.10:g.155874190A>T
NM_006912.4:c.341T>A
NM_006912.5:c.341T>A

Protein change:

F114Y

Links:

dbSNP: rs745807905

NCBI 1000 Genomes Browser:

rs745807905

Molecular consequence:

NM_001256820.2:c.233T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001256821.2:c.392T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006912.6:c.341T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002614326	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Jun 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002614326

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Jun 22, 2023)

germline

clinical testing

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 Ambry Genetics, SCV002614326.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.F114Y variant (also known as c.341T>A), located in coding exon 4 of the RIT1 gene, results from a T to A substitution at nucleotide position 341. The phenylalanine at codon 114 is replaced by tyrosine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Feb 20, 2024

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