ENST00000534663.1:n.-568-1133C>T

Variant names:

• chr11-36513763-T-.
• NM_001377277.1:c.-289+3226T>.

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_001377277.1(RAG1):​c.-289+3226T>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: RAG1 NM_001377277.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned

Genes affected

RAG1 (HGNC:9831): (recombination activating 1) The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
RAG1	NM_001377277.1	c.-289+3226T>.		intron_variant	Intron 1 of 4		NP_001364206.1
RAG1	NM_001377278.1	c.-227+3226T>.		intron_variant	Intron 1 of 3		NP_001364207.1
RAG1	NM_001377279.1	c.-129+3226T>.		intron_variant	Intron 1 of 2		NP_001364208.1
RAG1	NM_001377280.1	c.-15+3226T>.		intron_variant	Intron 1 of 1		NP_001364209.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
RAG1	ENST00000697713.1	c.-131+3226T>.		intron_variant	Intron 1 of 2			ENSP00000513411.1
RAG1	ENST00000697714.1	c.-15+3226T>.		intron_variant	Intron 1 of 1			ENSP00000513412.1
RAG1	ENST00000697715.1	c.-289+3226T>.		intron_variant	Intron 1 of 4			ENSP00000513413.1
RAG1	ENST00000529126.5	n.330+2725T>.		intron_variant	Intron 1 of 2	3

Frequencies

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

We have no GnomAD4 genomes data on this position. Probably position not covered by the project.

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr11-36535313;