rs178637
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002471.4(MYH6):c.5164-22A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0808 in 1,613,572 control chromosomes in the GnomAD database, including 5,824 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_002471.4 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH6 | NM_002471.4 | c.5164-22A>G | intron_variant | Intron 34 of 38 | ENST00000405093.9 | NP_002462.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0779 AC: 11836AN: 152016Hom.: 528 Cov.: 32
GnomAD3 exomes AF: 0.0793 AC: 19936AN: 251448Hom.: 934 AF XY: 0.0805 AC XY: 10940AN XY: 135912
GnomAD4 exome AF: 0.0811 AC: 118582AN: 1461438Hom.: 5298 Cov.: 34 AF XY: 0.0815 AC XY: 59254AN XY: 727072
GnomAD4 genome AF: 0.0777 AC: 11824AN: 152134Hom.: 526 Cov.: 32 AF XY: 0.0810 AC XY: 6022AN XY: 74368
ClinVar
Submissions by phenotype
not specified Benign:1
- -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at