20-34978039-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_ModerateBS1_SupportingBS2_Supporting
The NM_020884.7(MYH7B):c.34C>T(p.Arg12Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000057 in 1,614,102 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020884.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYH7B | ENST00000262873.13 | c.34C>T | p.Arg12Cys | missense_variant | 5/45 | 1 | NM_020884.7 | ENSP00000262873.8 | ||
MYH7B | ENST00000470929.5 | n.120C>T | non_coding_transcript_exon_variant | 2/6 | 2 | |||||
MYH7B | ENST00000673749.1 | n.568C>T | non_coding_transcript_exon_variant | 5/9 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000962 AC: 24AN: 249514Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135362
GnomAD4 exome AF: 0.0000595 AC: 87AN: 1461834Hom.: 0 Cov.: 32 AF XY: 0.0000784 AC XY: 57AN XY: 727214
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152268Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 08, 2024 | The c.160C>T (p.R54C) alteration is located in exon 5 (coding exon 3) of the MYH7B gene. This alteration results from a C to T substitution at nucleotide position 160, causing the arginine (R) at amino acid position 54 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at