14-23430890-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_000257.4(MYH7):c.895+11G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000207 in 1,449,722 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_000257.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1449722Hom.: 0 Cov.: 31 AF XY: 0.00000415 AC XY: 3AN XY: 722072
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Benign:1
895+11G>A in intron 10 of MYH7: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. 895+ 11G>A in intron 10 of MYH7 (allele frequency = n/a) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at