rs886049787

Variant names:

• chr12-66347467-CTGTT-C
• rs886049787
• NM_001366722.1:c.*1548_*1551delAACA

Your query was ambiguous. Multiple possible variants found:

• chr12-66347467-CTGTT-C
• chr12-66347467-CTGTT-CTGTTTGTT

Variant summary

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

The NM_001366722.1(GRIP1):​c.*1548_*1551delAACA variant causes a 3 prime UTR change. 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
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 6.28

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]

ACMG classification

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
GRIP1	NM_001366722.1	c.*1548_*1551delAACA		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
GRIP1	ENST00000359742	c.*1548_*1551delAACA		3_prime_UTR_variant	Exon 25 of 25	5	NM_001366722.1	ENSP00000352780.4
GRIP1	ENST00000398016	c.*1548_*1551delAACA		3_prime_UTR_variant	Exon 24 of 24	1		ENSP00000381098.3
GRIP1	ENST00000696989.1	c.*1548_*1551delAACA		downstream_gene_variant				ENSP00000513025.1

Frequencies

GnomAD3 genomes Cov.: 33

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

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs886049787; hg19: chr12-66741247;