chr14-23390171-G-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_002471.4(MYH6):āc.3618C>Gā(p.Gly1206=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000893 in 1,456,212 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 Lovd as Benign (no stars). Synonymous variant affecting the same amino acid position (i.e. G1206G) has been classified as Uncertain significance.
Frequency
Consequence
NM_002471.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH6 | NM_002471.4 | c.3618C>G | p.Gly1206= | synonymous_variant | 26/39 | ENST00000405093.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH6 | ENST00000405093.9 | c.3618C>G | p.Gly1206= | synonymous_variant | 26/39 | 5 | NM_002471.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 151544Hom.: 0 Cov.: 31 FAILED QC
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249096Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134848
GnomAD4 exome AF: 0.00000893 AC: 13AN: 1456212Hom.: 0 Cov.: 34 AF XY: 0.0000138 AC XY: 10AN XY: 723894
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 151544Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73964
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at