rs373899395
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001040113.2(MYH11):āc.5832G>Cā(p.Ser1944=) variant causes a synonymous change. The variant allele was found at a frequency of 0.00000249 in 1,608,956 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 Uncertain significance (ā ). Synonymous variant affecting the same amino acid position (i.e. S1944S) has been classified as Likely benign.
Frequency
Consequence
NM_001040113.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH11 | NM_001040113.2 | c.5832G>C | p.Ser1944= | synonymous_variant | 42/43 | ENST00000452625.7 | |
MYH11 | NM_002474.3 | c.5787-4694G>C | intron_variant | ENST00000300036.6 | |||
NDE1 | NM_017668.3 | c.947+11957C>G | intron_variant | ENST00000396354.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH11 | ENST00000452625.7 | c.5832G>C | p.Ser1944= | synonymous_variant | 42/43 | 1 | NM_001040113.2 | ||
MYH11 | ENST00000300036.6 | c.5787-4694G>C | intron_variant | 1 | NM_002474.3 | P3 | |||
NDE1 | ENST00000396354.6 | c.947+11957C>G | intron_variant | 1 | NM_017668.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152142Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000414 AC: 1AN: 241780Hom.: 0 AF XY: 0.00000767 AC XY: 1AN XY: 130362
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1456814Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 724006
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152142Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Submissions by phenotype
Aortic aneurysm, familial thoracic 4 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Nov 08, 2022 | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with MYH11-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 1944 of the MYH11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYH11 protein. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at