16-15750206-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_002474.3(MYH11):c.1990C>T(p.Leu664=) variant causes a synonymous change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. L664L) has been classified as Likely benign.
Frequency
Consequence
NM_002474.3 synonymous
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 |
---|---|---|---|---|---|---|---|
MYH11 | NM_002474.3 | c.1990C>T | p.Leu664= | synonymous_variant | 16/41 | ENST00000300036.6 | |
MYH11 | NM_001040113.2 | c.2011C>T | p.Leu671= | synonymous_variant | 17/43 | ENST00000452625.7 | |
MYH11 | NM_001040114.2 | c.2011C>T | p.Leu671= | synonymous_variant | 17/42 | ||
MYH11 | NM_022844.3 | c.1990C>T | p.Leu664= | synonymous_variant | 16/42 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH11 | ENST00000300036.6 | c.1990C>T | p.Leu664= | synonymous_variant | 16/41 | 1 | NM_002474.3 | P3 | |
MYH11 | ENST00000452625.7 | c.2011C>T | p.Leu671= | synonymous_variant | 17/43 | 1 | NM_001040113.2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461888Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727246
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Aortic aneurysm, familial thoracic 4 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 02, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at