rs11882073
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001145809.2(MYH14):c.5573G>A(p.Arg1858His) variant causes a missense change. The variant allele was found at a frequency of 0.000296 in 1,613,918 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1858C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001145809.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH14 | NM_001145809.2 | c.5573G>A | p.Arg1858His | missense_variant | 40/43 | ENST00000642316.2 | |
MYH14 | NM_001077186.2 | c.5474G>A | p.Arg1825His | missense_variant | 39/42 | ||
MYH14 | NM_024729.4 | c.5450G>A | p.Arg1817His | missense_variant | 38/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH14 | ENST00000642316.2 | c.5573G>A | p.Arg1858His | missense_variant | 40/43 | NM_001145809.2 |
Frequencies
GnomAD3 genomes AF: 0.00131 AC: 199AN: 152182Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000394 AC: 98AN: 248486Hom.: 1 AF XY: 0.000311 AC XY: 42AN XY: 134922
GnomAD4 exome AF: 0.000189 AC: 276AN: 1461618Hom.: 3 Cov.: 31 AF XY: 0.000180 AC XY: 131AN XY: 727100
GnomAD4 genome AF: 0.00132 AC: 201AN: 152300Hom.: 2 Cov.: 32 AF XY: 0.00136 AC XY: 101AN XY: 74480
ClinVar
Submissions by phenotype
not specified Benign:3
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | May 03, 2016 | - - |
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | May 26, 2015 | p.Arg1858His in exon 40 of MYH14: This variant is not expected to have clinical significance because it has been identified in 0.5% (52/9586) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs11882073). - |
not provided Benign:3
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 22, 2021 | - - |
Likely benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Sep 13, 2023 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Nov 18, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at