20-34977658-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBS2_Supporting
The NM_020884.7(MYH7B):c.-95C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000379 in 1,583,312 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 Uncertain significance (★).
Frequency
Consequence
NM_020884.7 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYH7B | ENST00000262873 | c.-95C>T | 5_prime_UTR_variant | Exon 4 of 45 | 1 | NM_020884.7 | ENSP00000262873.8 | |||
MYH7B | ENST00000673749.1 | n.440C>T | non_coding_transcript_exon_variant | Exon 4 of 9 | ||||||
MYH7B | ENST00000470929.5 | n.-9C>T | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000662 AC: 1AN: 151104Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.00000349 AC: 5AN: 1432090Hom.: 0 Cov.: 31 AF XY: 0.00000423 AC XY: 3AN XY: 708944
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151222Hom.: 0 Cov.: 29 AF XY: 0.0000135 AC XY: 1AN XY: 73878
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 11 of the MYH7B protein (p.Ser11Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYH7B-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at