NM_000448.3(RAG1):c.256_257del (p.Lys86fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 5, 2018
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:: RCV000725574.6

Allele description [Variation Report for NM_000448.3(RAG1):c.256_257del (p.Lys86fs)]

NM_000448.3(RAG1):c.256_257del (p.Lys86fs)

Gene:

RAG1:recombination activating 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p12

Genomic location:

Preferred name:

NM_000448.3(RAG1):c.256_257del (p.Lys86fs)

Other names:

NM_000448.3(RAG1):c.256_257del; p.Lys86fs

HGVS:

NC_000011.10:g.36573560_36573561del
NG_007528.1:g.10548_10549del
NM_000448.3:c.256_257delMANE SELECT
NM_001377277.1:c.256_257del
NM_001377278.1:c.256_257del
NM_001377279.1:c.256_257del
NM_001377280.1:c.256_257del
NP_000439.2:p.Lys86fs
NP_001364206.1:p.Lys86fs
NP_001364207.1:p.Lys86fs
NP_001364208.1:p.Lys86fs
NP_001364209.1:p.Lys86fs
LRG_98:g.10548_10549del
NC_000011.9:g.36595110_36595111del
NM_000448.2:c.256_257delAA
NM_000448.3:c.256_257del

Links:

OMIM: 179615.0013; dbSNP: rs772962160

NCBI 1000 Genomes Browser:

rs772962160

Molecular consequence:

NM_000448.3:c.256_257del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377277.1:c.256_257del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377278.1:c.256_257del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377279.1:c.256_257del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377280.1:c.256_257del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000337892	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Dec 2, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23122631, 24418478 Citation Link,
SCV000927916	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Sep 5, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000337892

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Dec 2, 2015)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000927916

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Sep 5, 2018)

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
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.

Abraham RS, Recher M, Giliani S, Walter JE, Lee YN, Frugoni F, Maddox DE, Kirmani S, Notarangelo LD.

J Allergy Clin Immunol. 2013 May;131(5):1421-3. doi: 10.1016/j.jaci.2012.09.016. Epub 2012 Nov 2. No abstract available.

PubMed [citation]

PMID:: 23122631
PMCID:: PMC3725988

IJspeert H, Driessen GJ, Moorhouse MJ, Hartwig NG, Wolska-Kusnierz B, Kalwak K, Pituch-Noworolska A, Kondratenko I, van Montfrans JM, Mejstrikova E, Lankester AC, Langerak AW, van Gent DC, Stubbs AP, van Dongen JJ, van der Burg M.

J Allergy Clin Immunol. 2014 Apr;133(4):1124-33. doi: 10.1016/j.jaci.2013.11.028. Epub 2014 Jan 11.

PubMed [citation]

PMID:: 24418478
PMCID:: PMC7112318

Details of each submission

From Eurofins Ntd Llc (ga), SCV000337892.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	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		1	not provided	not provided	not provided

From Blueprint Genetics, SCV000927916.1

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

#	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
2	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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