NM_006912.6(RIT1):c.268A>G (p.Met90Val) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2022
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:: RCV000681030.5

Allele description [Variation Report for NM_006912.6(RIT1):c.268A>G (p.Met90Val)]

NM_006912.6(RIT1):c.268A>G (p.Met90Val)

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.268A>G (p.Met90Val)

HGVS:

NC_000001.11:g.155904472T>C
NG_033885.1:g.11931A>G
NM_001256820.2:c.160A>G
NM_001256821.2:c.319A>G
NM_006912.6:c.268A>GMANE SELECT
NP_001243749.1:p.Met54Val
NP_001243750.1:p.Met107Val
NP_008843.1:p.Met90Val
LRG_1372t1:c.268A>G
LRG_1372:g.11931A>G
LRG_1372p1:p.Met90Val
NC_000001.10:g.155874263T>C
NM_001256821.1:c.319A>G
NM_006912.5:c.268A>G

Protein change:

M107V

Links:

Molecular consequence:

NM_001256820.2:c.160A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001256821.2:c.319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006912.6:c.268A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000808482	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000808482

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 1, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000808482.3

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

Description

Published functional studies have shown p.(M90V) results in increased ERK1/2 activation in response to serum activation compared to wild type (Meyer et al., 2018).; Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29565699, 30293990, 31324109, 30712878, 34306696, 27109146, 35595454, 36274670, 29734338, 32304219)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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