GeneBe

12-66347491-TTTTA-TTTTATTTA

Variant names:

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_001366722.1(GRIP1):​c.*1524_*1527dupTAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 33)

Consequence

GRIP1
NM_001366722.1 3_prime_UTR

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.69
Variant links:
Genes affected
GRIP1 (HGNC:18708): (glutamate receptor interacting protein 1) This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
GRIP1NM_001366722.1 linkc.*1524_*1527dupTAAA 3_prime_UTR_variant Exon 25 of 25 ENST00000359742.9 NP_001353651.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
GRIP1ENST00000359742 linkc.*1524_*1527dupTAAA 3_prime_UTR_variant Exon 25 of 25 5 NM_001366722.1 ENSP00000352780.4 Q9Y3R0-1
GRIP1ENST00000398016 linkc.*1524_*1527dupTAAA 3_prime_UTR_variant Exon 24 of 24 1 ENSP00000381098.3 Q9Y3R0-3
GRIP1ENST00000696989.1 linkc.*1524_*1527dupTAAA downstream_gene_variant ENSP00000513025.1 A0A8V8TLS6

Frequencies

GnomAD3 genomes
Cov.:
33
GnomAD4 exome
Cov.:
0
GnomAD4 genome
Cov.:
33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

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: chr12-66741271; API