rs564367705
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_ModerateBP6BP7BS2
The NM_002471.4(MYH6):c.3447C>T(p.Ser1149Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000056 in 1,608,138 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_002471.4 synonymous
Scores
Clinical Significance
Conservation
Publications
- MYH-6 related congenital heart defectsInheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
- hypertrophic cardiomyopathy 14Inheritance: AD Classification: STRONG, LIMITED Submitted by: Laboratory for Molecular Medicine, Labcorp Genetics (formerly Invitae)
- Keppen-Lubinsky syndromeInheritance: AD Classification: MODERATE Submitted by: Illumina
- familial isolated dilated cardiomyopathyInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- atrial septal defect 3Inheritance: AD Classification: LIMITED Submitted by: G2P
- dilated cardiomyopathyInheritance: AD Classification: LIMITED Submitted by: ClinGen
- hypertrophic cardiomyopathyInheritance: AD Classification: NO_KNOWN Submitted by: ClinGen
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_002471.4. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| MYH6 | TSL:5 MANE Select | c.3447C>T | p.Ser1149Ser | synonymous | Exon 26 of 39 | ENSP00000386041.3 | P13533 | ||
| MYH6 | c.3480C>T | p.Ser1160Ser | synonymous | Exon 26 of 39 | ENSP00000638321.1 | ||||
| MYH6 | c.3447C>T | p.Ser1149Ser | synonymous | Exon 26 of 39 | ENSP00000638316.1 |
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151420Hom.: 0 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.00000832 AC: 2AN: 240372 AF XY: 0.0000152 show subpopulations
GnomAD4 exome AF: 0.00000549 AC: 8AN: 1456718Hom.: 0 Cov.: 34 AF XY: 0.00000690 AC XY: 5AN XY: 724734 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00000660 AC: 1AN: 151420Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73900 show subpopulations
Age Distribution
ClinVar
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at