GeneBe

14-105529711-GTGC-G

Position:

Variant summary

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

The NM_025268.4(TMEM121):​c.878_880del​(p.Val293_Pro294delinsAla) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (no stars).

Frequency

Genomes: not found (cov: 0)

Consequence

TMEM121
NM_025268.4 inframe_deletion

Scores

Not classified

Clinical Significance

Uncertain significance no assertion criteria provided U:1

Conservation

PhyloP100: 1.78
Variant links:
Genes affected
TMEM121 (HGNC:20511): (transmembrane protein 121) Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
TMEM121NM_025268.4 linkuse as main transcriptc.878_880del p.Val293_Pro294delinsAla inframe_deletion 2/2 ENST00000392519.7 NP_079544.1
TMEM121NM_001331238.2 linkuse as main transcriptc.878_880del p.Val293_Pro294delinsAla inframe_deletion 2/2 NP_001318167.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
TMEM121ENST00000392519.7 linkuse as main transcriptc.878_880del p.Val293_Pro294delinsAla inframe_deletion 2/21 NM_025268.4 ENSP00000376304 P1

Frequencies

GnomAD3 genomes
Cov.:
0
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
Cov.:
0

ClinVar

Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: no assertion criteria provided
LINK: link

Submissions by phenotype

Myoepithelial tumor Uncertain:1
Uncertain significance, no assertion criteria providedresearchCaryl and Israel Englander Institute for Precision Medicine, Weill Cornell MedicineNov 01, 2022- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

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

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs2084626657; hg19: chr14-105996048; API