11-77214663-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000260.4(MYO7A):c.6615G>T(p.Met2205Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000000696 in 1,435,848 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin ClinVar.
Frequency
Consequence
NM_000260.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO7A | NM_000260.4 | c.6615G>T | p.Met2205Ile | missense_variant | 49/49 | ENST00000409709.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO7A | ENST00000409709.9 | c.6615G>T | p.Met2205Ile | missense_variant | 49/49 | 1 | NM_000260.4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000479 AC: 1AN: 208946Hom.: 0 AF XY: 0.00000893 AC XY: 1AN XY: 112018
GnomAD4 exome AF: 6.96e-7 AC: 1AN: 1435848Hom.: 0 Cov.: 30 AF XY: 0.00000141 AC XY: 1AN XY: 711382
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at