NM_002474.3:c.790+28T>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002474.3(MYH11):c.790+28T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.196 in 1,611,568 control chromosomes in the GnomAD database, including 31,962 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002474.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH11 | NM_002474.3 | c.790+28T>C | intron_variant | Intron 7 of 40 | ENST00000300036.6 | NP_002465.1 | ||
MYH11 | NM_001040113.2 | c.811+28T>C | intron_variant | Intron 8 of 42 | ENST00000452625.7 | NP_001035202.1 | ||
MYH11 | NM_001040114.2 | c.811+28T>C | intron_variant | Intron 8 of 41 | NP_001035203.1 | |||
MYH11 | NM_022844.3 | c.790+28T>C | intron_variant | Intron 7 of 41 | NP_074035.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.194 AC: 29523AN: 151880Hom.: 2970 Cov.: 31
GnomAD3 exomes AF: 0.194 AC: 48864AN: 251438Hom.: 5161 AF XY: 0.196 AC XY: 26647AN XY: 135892
GnomAD4 exome AF: 0.197 AC: 287100AN: 1459570Hom.: 28991 Cov.: 31 AF XY: 0.196 AC XY: 142421AN XY: 726280
GnomAD4 genome AF: 0.194 AC: 29547AN: 151998Hom.: 2971 Cov.: 31 AF XY: 0.195 AC XY: 14469AN XY: 74274
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at