rs727503328
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000260.4(MYO7A):c.3856G>A(p.Ala1286Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000415 in 1,592,094 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 Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A1286V) has been classified as Uncertain significance.
Frequency
Consequence
NM_000260.4 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 |
---|---|---|---|---|---|---|---|
MYO7A | NM_000260.4 | c.3856G>A | p.Ala1286Thr | missense_variant | 30/49 | ENST00000409709.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO7A | ENST00000409709.9 | c.3856G>A | p.Ala1286Thr | missense_variant | 30/49 | 1 | NM_000260.4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151660Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000606 AC: 13AN: 214384Hom.: 0 AF XY: 0.0000864 AC XY: 10AN XY: 115698
GnomAD4 exome AF: 0.0000451 AC: 65AN: 1440434Hom.: 0 Cov.: 31 AF XY: 0.0000630 AC XY: 45AN XY: 714360
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151660Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74018
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 | Feb 20, 2014 | The Ala1286Thr variant in MYO7A has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analyses do not provide strong support for or ag ainst an impact to the protein. In summary, additional information is needed to determine the clinical significance of this variant. - |
Usher syndrome type 1;C1838701:Autosomal recessive nonsyndromic hearing loss 2 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | Apr 03, 2017 | - - |
Usher syndrome type 1B Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Sep 16, 2020 | - - |
Retinal dystrophy Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Blueprint Genetics | Jun 18, 2018 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 25, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at