rs566157802
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_002471.4(MYH6):c.202-12C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000632 in 1,614,072 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 (★★).
Frequency
Consequence
NM_002471.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH6 | NM_002471.4 | c.202-12C>T | intron_variant | Intron 3 of 38 | ENST00000405093.9 | NP_002462.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000995 AC: 25AN: 251366Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135862
GnomAD4 exome AF: 0.0000499 AC: 73AN: 1461862Hom.: 0 Cov.: 34 AF XY: 0.0000385 AC XY: 28AN XY: 727236
GnomAD4 genome AF: 0.000191 AC: 29AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74408
ClinVar
Submissions by phenotype
not specified Benign:1
202-12C>T in intron 3 of MYH6: This variant is not expected to have clinical sig nificance because a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. 202-12C>T in intron 3 of MYH6 (allele frequency = n/a) -
Hypertrophic cardiomyopathy 14 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