17-10444881-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_017533.2(MYH4):c.5485G>A(p.Glu1829Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,186 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017533.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH4 | NM_017533.2 | c.5485G>A | p.Glu1829Lys | missense_variant | Exon 38 of 40 | ENST00000255381.2 | NP_060003.2 | |
MYH4 | XM_017024676.2 | c.5485G>A | p.Glu1829Lys | missense_variant | Exon 36 of 38 | XP_016880165.1 | ||
MYHAS | NR_125367.1 | n.167+38643C>T | intron_variant | Intron 2 of 10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYH4 | ENST00000255381.2 | c.5485G>A | p.Glu1829Lys | missense_variant | Exon 38 of 40 | 1 | NM_017533.2 | ENSP00000255381.2 | ||
ENSG00000272736 | ENST00000399342.6 | n.206+38604C>T | intron_variant | Intron 2 of 3 | 3 | |||||
ENSG00000272736 | ENST00000581304.1 | n.143+38643C>T | intron_variant | Intron 2 of 3 | 3 | |||||
MYHAS | ENST00000587182.2 | n.155+38643C>T | intron_variant | Intron 2 of 10 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152186Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5485G>A (p.E1829K) alteration is located in exon 38 (coding exon 36) of the MYH4 gene. This alteration results from a G to A substitution at nucleotide position 5485, causing the glutamic acid (E) at amino acid position 1829 to be replaced by a lysine (K). 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