rs8106196
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_001145809.2(MYH14):c.33G>A(p.Arg11=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000247 in 1,580,636 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. R11R) has been classified as Benign.
Frequency
Consequence
NM_001145809.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH14 | NM_001145809.2 | c.33G>A | p.Arg11= | synonymous_variant | 2/43 | ENST00000642316.2 | |
MYH14 | NM_001077186.2 | c.33G>A | p.Arg11= | synonymous_variant | 2/42 | ||
MYH14 | NM_024729.4 | c.33G>A | p.Arg11= | synonymous_variant | 2/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH14 | ENST00000642316.2 | c.33G>A | p.Arg11= | synonymous_variant | 2/43 | NM_001145809.2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000592 AC: 9AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000116 AC: 22AN: 190242Hom.: 0 AF XY: 0.000104 AC XY: 11AN XY: 105366
GnomAD4 exome AF: 0.0000210 AC: 30AN: 1428384Hom.: 0 Cov.: 31 AF XY: 0.0000212 AC XY: 15AN XY: 708782
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152252Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74462
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 03, 2016 | p.Arg11Arg in exon 2 of MYH14: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, and is not located wi thin the splice consensus sequence. It has been identified in 0.4% (11/3002) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs8106196). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at