14-23399076-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002471.4(MYH6):c.1582-39C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.242 in 1,608,864 control chromosomes in the GnomAD database, including 49,114 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
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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.1582-39C>T | intron_variant | Intron 14 of 38 | ENST00000405093.9 | NP_002462.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.225 AC: 34122AN: 151824Hom.: 4081 Cov.: 31
GnomAD3 exomes AF: 0.210 AC: 52154AN: 248560Hom.: 6004 AF XY: 0.214 AC XY: 28824AN XY: 134610
GnomAD4 exome AF: 0.244 AC: 355222AN: 1456922Hom.: 45035 Cov.: 32 AF XY: 0.243 AC XY: 175981AN XY: 725090
GnomAD4 genome AF: 0.225 AC: 34134AN: 151942Hom.: 4079 Cov.: 31 AF XY: 0.222 AC XY: 16516AN XY: 74270
ClinVar
Submissions by phenotype
not specified Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at