chr16-15757828-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The NM_002474.3(MYH11):c.1574C>A(p.Pro525Gln) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,890 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P525L) has been classified as Uncertain significance.
Frequency
Consequence
NM_002474.3 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH11 | NM_002474.3 | c.1574C>A | p.Pro525Gln | missense_variant, splice_region_variant | 13/41 | ENST00000300036.6 | |
MYH11 | NM_001040113.2 | c.1595C>A | p.Pro532Gln | missense_variant, splice_region_variant | 14/43 | ENST00000452625.7 | |
MYH11 | NM_001040114.2 | c.1595C>A | p.Pro532Gln | missense_variant, splice_region_variant | 14/42 | ||
MYH11 | NM_022844.3 | c.1574C>A | p.Pro525Gln | missense_variant, splice_region_variant | 13/42 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH11 | ENST00000300036.6 | c.1574C>A | p.Pro525Gln | missense_variant, splice_region_variant | 13/41 | 1 | NM_002474.3 | P3 | |
MYH11 | ENST00000452625.7 | c.1595C>A | p.Pro532Gln | missense_variant, splice_region_variant | 14/43 | 1 | NM_001040113.2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251054Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135758
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461890Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727246
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at