rs1393521993
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001145809.2(MYH14):c.47G>A(p.Arg16Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
MYH14
NM_001145809.2 missense
NM_001145809.2 missense
Scores
2
17
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.389
Genes affected
MYH14 (HGNC:23212): (myosin heavy chain 14) This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.19137448).
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| MYH14 | NM_001145809.2 | c.47G>A | p.Arg16Lys | missense_variant | Exon 2 of 43 | ENST00000642316.2 | NP_001139281.1 | |
| MYH14 | NM_001077186.2 | c.47G>A | p.Arg16Lys | missense_variant | Exon 2 of 42 | NP_001070654.1 | ||
| MYH14 | NM_024729.4 | c.47G>A | p.Arg16Lys | missense_variant | Exon 2 of 41 | NP_079005.3 |
Ensembl
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1418992Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 703202
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
1418992
Hom.:
Cov.:
31
AF XY:
AC XY:
0
AN XY:
703202
Gnomad4 AFR exome
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Gnomad4 AMR exome
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Gnomad4 ASJ exome
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Gnomad4 EAS exome
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Gnomad4 SAS exome
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Gnomad4 FIN exome
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Gnomad4 OTH exome
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GnomAD4 genome
GnomAD4 genome
Cov.:
32
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Uncertain
DEOGEN2
Benign
.;.;T;.;T;.;.;T
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
.;T;T;.;T;T;T;.
M_CAP
Benign
D
MetaRNN
Benign
T;T;T;T;T;T;T;T
MetaSVM
Benign
T
MutationAssessor
Benign
L;L;L;L;.;L;.;L
PrimateAI
Uncertain
T
PROVEAN
Benign
.;N;N;.;.;.;.;.
REVEL
Benign
Sift
Benign
.;T;T;.;.;.;.;.
Sift4G
Benign
T;T;T;.;T;T;.;T
Polyphen
P;P;P;P;.;P;.;P
Vest4
MutPred
Gain of ubiquitination at R16 (P = 0.0085);Gain of ubiquitination at R16 (P = 0.0085);Gain of ubiquitination at R16 (P = 0.0085);Gain of ubiquitination at R16 (P = 0.0085);Gain of ubiquitination at R16 (P = 0.0085);Gain of ubiquitination at R16 (P = 0.0085);Gain of ubiquitination at R16 (P = 0.0085);Gain of ubiquitination at R16 (P = 0.0085);
MVP
MPC
0.46
ClinPred
D
GERP RS
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at