chr1-203172007-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004997.3(MYBPH):c.542G>A(p.Arg181His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,320,300 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. R181P) has been classified as Uncertain significance.
Frequency
Consequence
NM_004997.3 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 |
---|---|---|---|---|---|---|---|
MYBPH | NM_004997.3 | c.542G>A | p.Arg181His | missense_variant | 4/11 | ENST00000255416.9 | |
MYBPH | XM_047421205.1 | c.665G>A | p.Arg222His | missense_variant | 5/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYBPH | ENST00000255416.9 | c.542G>A | p.Arg181His | missense_variant | 4/11 | 1 | NM_004997.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152038Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000260 AC: 3AN: 115364Hom.: 0 AF XY: 0.0000162 AC XY: 1AN XY: 61774
GnomAD4 exome AF: 0.0000171 AC: 20AN: 1168262Hom.: 0 Cov.: 31 AF XY: 0.0000232 AC XY: 13AN XY: 559424
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152038Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74242
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 29, 2021 | The c.542G>A (p.R181H) alteration is located in exon 4 (coding exon 4) of the MYBPH gene. This alteration results from a G to A substitution at nucleotide position 542, causing the arginine (R) at amino acid position 181 to be replaced by a histidine (H). 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