rs587777920

Variant summary

Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_Strong

The NM_003977.4(AIP):​c.74_81delTCCCGGACinsNNNNNNN​(p.Leu25fs) variant causes a frameshift, missense change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: đť‘“ N/A ( N/A hom., cov: )
Exomes đť‘“: N/A ( N/A hom. )

Consequence

AIP
NM_003977.4 frameshift, missense

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

No conservation score assigned
Variant links:
Genes affected
AIP (HGNC:358): (aryl hydrocarbon receptor interacting protein) The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 4 ACMG points.

PVS1
Loss of function variant, product does not undergo nonsense mediated mRNA decay. Variant located near the start codon (<100nt), not predicted to undergo nonsense mediated mRNA decay. Fraction of 0.925 CDS is truncated, and there are 3 pathogenic variants in the truncated region.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
AIPNM_003977.4 linkuse as main transcriptc.74_81delTCCCGGACinsNNNNNNN p.Leu25fs frameshift_variant, missense_variant 1/6 ENST00000279146.8 NP_003968.3 O00170
AIPNM_001302960.2 linkuse as main transcriptc.74_81delTCCCGGACinsNNNNNNN p.Leu25fs frameshift_variant, missense_variant 1/6 NP_001289889.1 O00170A0A804HJ38

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
AIPENST00000279146.8 linkuse as main transcriptc.74_81delTCCCGGACinsNNNNNNN p.Leu25fs frameshift_variant, missense_variant 1/61 NM_003977.4 ENSP00000279146.3 O00170

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: chr11-67250703; API