17-10443457-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_017533.2(MYH4):c.5738G>A(p.Arg1913Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000316 in 1,614,000 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH4 | NM_017533.2 | c.5738G>A | p.Arg1913Gln | missense_variant | Exon 40 of 40 | ENST00000255381.2 | NP_060003.2 | |
MYH4 | XM_017024676.2 | c.5738G>A | p.Arg1913Gln | missense_variant | Exon 38 of 38 | XP_016880165.1 | ||
MYHAS | NR_125367.1 | n.167+37219C>T | intron_variant | Intron 2 of 10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYH4 | ENST00000255381.2 | c.5738G>A | p.Arg1913Gln | missense_variant | Exon 40 of 40 | 1 | NM_017533.2 | ENSP00000255381.2 | ||
ENSG00000272736 | ENST00000399342.6 | n.206+37180C>T | intron_variant | Intron 2 of 3 | 3 | |||||
ENSG00000272736 | ENST00000581304.1 | n.143+37219C>T | intron_variant | Intron 2 of 3 | 3 | |||||
MYHAS | ENST00000587182.2 | n.155+37219C>T | intron_variant | Intron 2 of 10 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251474Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135912
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461816Hom.: 0 Cov.: 29 AF XY: 0.0000289 AC XY: 21AN XY: 727216
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5738G>A (p.R1913Q) alteration is located in exon 40 (coding exon 38) of the MYH4 gene. This alteration results from a G to A substitution at nucleotide position 5738, causing the arginine (R) at amino acid position 1913 to be replaced by a glutamine (Q). 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