NM_014314.4(RIGI):c.2400A>C (p.Val800=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 14, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003399306.4

Allele description [Variation Report for NM_014314.4(RIGI):c.2400A>C (p.Val800=)]

NM_014314.4(RIGI):c.2400A>C (p.Val800=)

Genes:

RIGI:RNA sensor RIG-I [Gene - OMIM - HGNC]
LOC101060445:uncharacterized LOC101060445 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.1

Genomic location:

Preferred name:

NM_014314.4(RIGI):c.2400A>C (p.Val800=)

Other names:

p.Val800=

HGVS:

NC_000009.12:g.32459452T>G
NG_046918.1:g.71873A>C
NM_001385907.1:c.2394A>C
NM_001385909.1:c.2229A>C
NM_001385910.1:c.1959A>C
NM_001385912.1:c.1791A>C
NM_001385913.1:c.2385A>C
NM_001385914.1:c.1956A>C
NM_014314.4:c.2400A>CMANE SELECT
NP_001372836.1:p.Val798=
NP_001372838.1:p.Val743=
NP_001372839.1:p.Val653=
NP_001372841.1:p.Val597=
NP_001372842.1:p.Val795=
NP_001372843.1:p.Val652=
NP_055129.2:p.Val800=
NC_000009.11:g.32459450T>G

Links:

dbSNP: rs3205166

Molecular consequence:

NM_001385907.1:c.2394A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001385909.1:c.2229A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001385910.1:c.1959A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001385912.1:c.1791A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001385913.1:c.2385A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001385914.1:c.1956A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_014314.4:c.2400A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

296

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004122993	Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 14, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV007301162	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 6, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004122993

Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Nov 14, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV007301162

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Sep 6, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	50	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	246	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan, SCV004122993.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	50	not provided	not provided	clinical testing	PubMed (1)

Description

This variant is classified as Benign based on local population frequency. This variant was detected in 52% of patients studied by a panel of primary immunodeficiencies. Number of patients: 50. Only high quality variants are reported.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		50	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV007301162.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	246	not provided	not provided	clinical testing	PubMed (1)

#	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		246	not provided	not provided	not provided

Last Updated: Mar 1, 2026

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