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NM_000448.2(RAG1):c.1064T>C (p.Met355Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 14, 2018)
Last evaluated:
Oct 31, 2018
Accession:
VCV000583401.1
Variation ID:
583401
Description:
single nucleotide variant
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NM_000448.2(RAG1):c.1064T>C (p.Met355Thr)

Allele ID
567235
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p12
Genomic location
11: 36574368 (GRCh38) GRCh38 UCSC
11: 36595918 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.36574368T>C
NC_000011.9:g.36595918T>C
NM_000448.2:c.1064T>C NP_000439.1:p.Met355Thr missense
... more HGVS
Protein change
M355T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00014
Exome Aggregation Consortium (ExAC) 0.00014
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00024
The Genome Aggregation Database (gnomAD) 0.00025
Links
-
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RAG1 - - GRCh38
GRCh37
189 216

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 21, 2018)
criteria provided, single submitter
Method: clinical testing
Combined cellular and humoral immune defects with granulomas
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
Allele origin: germline
Invitae
Accession: SCV000836836.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces methionine with threonine at codon 355 of the RAG1 protein (p.Met355Thr). The methionine residue is weakly conserved and there is a ... (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Combined cellular and humoral immune defects with granulomas
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
Histiocytic medullary reticulosis
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894622.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
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 Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Record last updated Oct 11, 2019