NM_003282.4:c.499_501delGAG
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM1PM2PM4_SupportingPP5_Moderate
The NM_003282.4(TNNI2):c.499_501delGAG(p.Glu167del) variant causes a conservative inframe deletion change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (★).
Frequency
Consequence
NM_003282.4 conservative_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNNI2 | NM_003282.4 | c.499_501delGAG | p.Glu167del | conservative_inframe_deletion | Exon 8 of 8 | ENST00000381911.6 | NP_003273.1 | |
TNNI2 | NM_001145829.2 | c.499_501delGAG | p.Glu167del | conservative_inframe_deletion | Exon 8 of 8 | NP_001139301.1 | ||
TNNI2 | NM_001145841.2 | c.499_501delGAG | p.Glu167del | conservative_inframe_deletion | Exon 6 of 6 | NP_001139313.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNNI2 | ENST00000381911.6 | c.499_501delGAG | p.Glu167del | conservative_inframe_deletion | Exon 8 of 8 | 2 | NM_003282.4 | ENSP00000371336.1 | ||
TNNI2 | ENST00000252898.11 | c.499_501delGAG | p.Glu167del | conservative_inframe_deletion | Exon 7 of 7 | 3 | ENSP00000252898.7 | |||
TNNI2 | ENST00000381905.3 | c.499_501delGAG | p.Glu167del | conservative_inframe_deletion | Exon 6 of 6 | 3 | ENSP00000371330.3 | |||
TNNI2 | ENST00000381906.5 | c.499_501delGAG | p.Glu167del | conservative_inframe_deletion | Exon 8 of 8 | 3 | ENSP00000371331.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Pathogenic:1Other:1
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Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; In-frame deletion of 1 amino acid in a non-repeat region; This variant is associated with the following publications: (PMID: 18331830, 23401156, 35052370, 36307859, 36566310, 35487415, 33060286, 16497570) -
Distal arthrogryposis type 2B1 Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at