1-43337860-G-A
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The NM_005373.3(MPL):c.12G>A(p.Trp4*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_005373.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MPL | ENST00000372470.9 | c.12G>A | p.Trp4* | stop_gained | Exon 1 of 12 | 1 | NM_005373.3 | ENSP00000361548.3 | ||
MPL | ENST00000413998.7 | c.12G>A | p.Trp4* | stop_gained | Exon 1 of 12 | 1 | ENSP00000414004.3 | |||
MPL | ENST00000638732.1 | n.12G>A | non_coding_transcript_exon_variant | Exon 1 of 10 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Congenital amegakaryocytic thrombocytopenia Uncertain:1
We have found subject diagnosed under congenital amegakaryocytic thrombocytopenia (CAMT). However, family members (Father, Sibling-Female) having the same variants were not found affected. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at