U.S. flag

An official website of the United States government

NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) AND Combined immunodeficiency due to partial RAG1 deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 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:
RCV003474645.1

Allele description [Variation Report for NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)]

NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)

Gene:
RAG1:recombination activating 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p12
Genomic location:
Preferred name:
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)
Other names:
NM_000448.3(RAG1):c.1331C>T
HGVS:
  • NC_000011.10:g.36574635C>T
  • NG_007528.1:g.11623C>T
  • NM_000448.3:c.1331C>TMANE SELECT
  • NM_001377277.1:c.1331C>T
  • NM_001377278.1:c.1331C>T
  • NM_001377279.1:c.1331C>T
  • NM_001377280.1:c.1331C>T
  • NP_000439.1:p.Ala444Val
  • NP_000439.2:p.Ala444Val
  • NP_001364206.1:p.Ala444Val
  • NP_001364207.1:p.Ala444Val
  • NP_001364208.1:p.Ala444Val
  • NP_001364209.1:p.Ala444Val
  • LRG_98t1:c.1331C>T
  • LRG_98:g.11623C>T
  • LRG_98p1:p.Ala444Val
  • NC_000011.9:g.36596185C>T
  • NM_000448.2:c.1331C>T
  • P15918:p.Ala444Val
Protein change:
A444V
Links:
UniProtKB: P15918#VAR_025977; UniProtKB/Swiss-Prot: VAR_025977; dbSNP: rs199474685
NCBI 1000 Genomes Browser:
rs199474685
Molecular consequence:
  • NM_000448.3:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377277.1:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377278.1:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377279.1:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377280.1:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined immunodeficiency due to partial RAG1 deficiency
Synonyms:
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Identifiers:
MONDO: MONDO:0012359; MedGen: C1835931; Orphanet: 231154; OMIM: 609889

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004200455Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 22, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Baylor Genetics, SCV004200455.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024