rs1554658501
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003289.4(TPM2):c.773-4_773-3insG variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000722 in 1,384,694 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003289.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TPM2 | NM_003289.4 | c.773-4_773-3insG | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000645482.3 | |||
TPM2 | NM_001301226.2 | c.772+1001_772+1002insG | intron_variant | ||||
TPM2 | NM_001301227.2 | c.773-4_773-3insG | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
TPM2 | NM_213674.1 | c.772+1001_772+1002insG | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TPM2 | ENST00000645482.3 | c.773-4_773-3insG | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | NM_003289.4 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 7.22e-7 AC: 1AN: 1384694Hom.: 0 Cov.: 34 AF XY: 0.00000146 AC XY: 1AN XY: 683636
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.