19-50268152-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001145809.2(MYH14):c.2827-9A>G variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000195 in 1,539,876 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001145809.2 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH14 | NM_001145809.2 | c.2827-9A>G | splice_polypyrimidine_tract_variant, intron_variant | ENST00000642316.2 | |||
MYH14 | NM_001077186.2 | c.2728-9A>G | splice_polypyrimidine_tract_variant, intron_variant | ||||
MYH14 | NM_024729.4 | c.2704-9A>G | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH14 | ENST00000642316.2 | c.2827-9A>G | splice_polypyrimidine_tract_variant, intron_variant | NM_001145809.2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151964Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000675 AC: 1AN: 148054Hom.: 0 AF XY: 0.0000127 AC XY: 1AN XY: 78822
GnomAD4 exome AF: 0.00000144 AC: 2AN: 1387796Hom.: 0 Cov.: 34 AF XY: 0.00000146 AC XY: 1AN XY: 684084
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152080Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at