22-25763322-G-A
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_032608.7(MYO18B):c.131G>A(p.Gly44Glu) variant causes a missense change. The variant allele was found at a frequency of 0.492 in 1,612,264 control chromosomes in the GnomAD database, including 206,410 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_032608.7 missense
Scores
Clinical Significance
Conservation
Publications
- Klippel-Feil anomaly-myopathy-facial dysmorphism syndromeInheritance: AR Classification: DEFINITIVE, STRONG, MODERATE, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Orphanet, Ambry Genetics, ClinGen, G2P
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ACMG classification
Our verdict: Benign. The variant received -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO18B | ENST00000335473.12 | c.131G>A | p.Gly44Glu | missense_variant | Exon 3 of 44 | 1 | NM_032608.7 | ENSP00000334563.8 | ||
MYO18B | ENST00000407587.6 | c.131G>A | p.Gly44Glu | missense_variant | Exon 3 of 44 | 1 | ENSP00000386096.2 | |||
MYO18B | ENST00000536101.5 | c.131G>A | p.Gly44Glu | missense_variant | Exon 3 of 43 | 1 | ENSP00000441229.1 | |||
MYO18B | ENST00000539302.5 | n.131G>A | non_coding_transcript_exon_variant | Exon 2 of 42 | 1 | ENSP00000437587.1 |
Frequencies
GnomAD3 genomes AF: 0.590 AC: 89623AN: 151890Hom.: 28850 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.549 AC: 135732AN: 247184 AF XY: 0.535 show subpopulations
GnomAD4 exome AF: 0.482 AC: 704014AN: 1460256Hom.: 177486 Cov.: 47 AF XY: 0.481 AC XY: 349536AN XY: 726382 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.590 AC: 89758AN: 152008Hom.: 28924 Cov.: 31 AF XY: 0.592 AC XY: 44015AN XY: 74292 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not provided Benign:3
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This variant is associated with the following publications: (PMID: 17000706) -
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Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at