GeneBe

ENST00000486903.5:n.-279+1320A>G

Variant names:

Variant summary

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

The ENST00000486903.5(SEL1L2):​n.-279+731G>. 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

SEL1L2
ENST00000486903.5 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

No conservation score assigned
Variant links:
Genes affected
SEL1L2 (HGNC:15897): (SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase) Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in ubiquitin-dependent ERAD pathway. Predicted to be integral component of membrane. Predicted to be part of Hrd1p ubiquitin ligase ERAD-L complex. [provided by Alliance of Genome Resources, Apr 2022]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
SEL1L2NM_001363752.2 linkc.-279+731G>. intron_variant Intron 1 of 16 NP_001350681.1
SEL1L2XM_047440521.1 linkc.-279+731G>. intron_variant Intron 1 of 19 XP_047296477.1
SEL1L2NR_073207.2 linkn.311+731G>. intron_variant Intron 1 of 18

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
SEL1L2ENST00000486903.5 linkn.-279+731G>. intron_variant Intron 1 of 18 1 ENSP00000493577.1 A0A2R8Y3T2
SEL1L2ENST00000646153.1 linkc.-279+731G>. intron_variant Intron 1 of 16 ENSP00000494947.1 A0A2R8YF92
SEL1L2ENST00000473203.1 linkc.-279+2028G>. intron_variant Intron 1 of 4 4 ENSP00000420372.1 C9JNX3

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

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction

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: chr20-13974938; API