20-34977663-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_020884.7(MYH7B):c.-90C>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 0.00064 in 1,576,972 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.00090 ( 0 hom., cov: 29)
Exomes 𝑓: 0.00061 ( 8 hom. )
Consequence
MYH7B
NM_020884.7 5_prime_UTR
NM_020884.7 5_prime_UTR
Scores
1
2
13
Clinical Significance
Conservation
PhyloP100: 0.343
Genes affected
MYH7B (HGNC:15906): (myosin heavy chain 7B) The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.006734729).
BP6
?
Variant 20-34977663-C-T is Benign according to our data. Variant chr20-34977663-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 737406.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BS1
?
Variant frequency is greater than expected in population sas. gnomad4 allele frequency = 0.000903 (136/150536) while in subpopulation SAS AF= 0.00298 (14/4694). AF 95% confidence interval is 0.0018. There are 0 homozygotes in gnomad4. There are 67 alleles in male gnomad4 subpopulation. Median coverage is 29. This position pass quality control queck.
BS2
?
High AC in GnomAd at 136 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH7B | NM_020884.7 | c.-90C>T | 5_prime_UTR_variant | 4/45 | ENST00000262873.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH7B | ENST00000262873.13 | c.-90C>T | 5_prime_UTR_variant | 4/45 | 1 | NM_020884.7 | P1 | ||
MYH7B | ENST00000673749.1 | n.445C>T | non_coding_transcript_exon_variant | 4/9 | |||||
MYH7B | ENST00000470929.5 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000904 AC: 136AN: 150404Hom.: 0 Cov.: 29
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GnomAD3 exomes AF: 0.00123 AC: 250AN: 202672Hom.: 0 AF XY: 0.00136 AC XY: 147AN XY: 108452
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GnomAD4 exome AF: 0.000612 AC: 873AN: 1426436Hom.: 8 Cov.: 31 AF XY: 0.000683 AC XY: 482AN XY: 705988
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ClinVar
Significance: Likely benign
Submissions summary: Benign:3
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 27, 2023 | - - |
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jun 01, 2023 | MYH7B: BP4 - |
MYH7B-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 01, 2022 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Uncertain
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
D
LIST_S2
Benign
T;T
M_CAP
Uncertain
D
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationTaster
Benign
N
PrimateAI
Benign
T
PROVEAN
Benign
N;.
REVEL
Benign
Sift
Pathogenic
D;.
Vest4
MVP
MPC
ClinPred
T
GERP RS
Varity_R
gMVP
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at