17-10445275-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017533.2(MYH4):c.5257C>A(p.Arg1753Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,856 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1753C) has been classified 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH4 | NM_017533.2 | c.5257C>A | p.Arg1753Ser | missense_variant | 36/40 | ENST00000255381.2 | |
MYHAS | NR_125367.1 | n.167+39037G>T | intron_variant, non_coding_transcript_variant | ||||
MYH4 | XM_017024676.2 | c.5257C>A | p.Arg1753Ser | missense_variant | 34/38 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH4 | ENST00000255381.2 | c.5257C>A | p.Arg1753Ser | missense_variant | 36/40 | 1 | NM_017533.2 | P1 | |
ENST00000399342.6 | n.206+38998G>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000581304.1 | n.143+39037G>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461856Hom.: 0 Cov.: 42 AF XY: 0.00 AC XY: 0AN XY: 727230
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 18, 2023 | The c.5257C>A (p.R1753S) alteration is located in exon 36 (coding exon 34) of the MYH4 gene. This alteration results from a C to A substitution at nucleotide position 5257, causing the arginine (R) at amino acid position 1753 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.