rs727503222
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001145809.2(MYH14):c.949G>A(p.Gly317Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000707 in 1,414,164 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. G317A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001145809.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH14 | NM_001145809.2 | c.949G>A | p.Gly317Arg | missense_variant | 9/43 | ENST00000642316.2 | |
MYH14 | NM_001077186.2 | c.949G>A | p.Gly317Arg | missense_variant | 9/42 | ||
MYH14 | NM_024729.4 | c.925G>A | p.Gly309Arg | missense_variant | 8/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH14 | ENST00000642316.2 | c.949G>A | p.Gly317Arg | missense_variant | 9/43 | NM_001145809.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.07e-7 AC: 1AN: 1414164Hom.: 0 Cov.: 31 AF XY: 0.00000143 AC XY: 1AN XY: 698914
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Jun 11, 2013 | The Gly317Arg variant in MYH14 has not been reported in individuals with hearing loss. Data from large population studies are insufficient to assess the frequen cy of this variant. Computational analyses (biochemical amino acid properties, c onservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for o r against an impact to the protein. In summary, additional data is needed to det ermine the clinical significance of this variant. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at