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NM_000448.3(RAG1):c.2204C>T (p.Ala735Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 6, 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:
RCV004028680.1

Allele description [Variation Report for NM_000448.3(RAG1):c.2204C>T (p.Ala735Val)]

NM_000448.3(RAG1):c.2204C>T (p.Ala735Val)

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.2204C>T (p.Ala735Val)
HGVS:
  • NC_000011.10:g.36575508C>T
  • NG_007528.1:g.12496C>T
  • NM_000448.3:c.2204C>TMANE SELECT
  • NM_001377277.1:c.2204C>T
  • NM_001377278.1:c.2204C>T
  • NM_001377279.1:c.2204C>T
  • NM_001377280.1:c.2204C>T
  • NP_000439.1:p.Ala735Val
  • NP_000439.2:p.Ala735Val
  • NP_001364206.1:p.Ala735Val
  • NP_001364207.1:p.Ala735Val
  • NP_001364208.1:p.Ala735Val
  • NP_001364209.1:p.Ala735Val
  • LRG_98t1:c.2204C>T
  • LRG_98:g.12496C>T
  • LRG_98p1:p.Ala735Val
  • NC_000011.9:g.36597058C>T
  • NM_000448.2:c.2204C>T
Protein change:
A735V
Links:
dbSNP: rs922541917
NCBI 1000 Genomes Browser:
rs922541917
Molecular consequence:
  • NM_000448.3:c.2204C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377277.1:c.2204C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377278.1:c.2204C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377279.1:c.2204C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377280.1:c.2204C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004936063Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 6, 2023) 		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, SCV004936063.1

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

Description

The c.2204C>T (p.A735V) alteration is located in exon 2 (coding exon 1) of the RAG1 gene. This alteration results from a C to T substitution at nucleotide position 2204, causing the alanine (A) at amino acid position 735 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024