11-77211314-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000260.4(MYO7A):c.6214G>T(p.Val2072Phe) 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. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V2072I) has been classified as Benign.
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
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO7A | ENST00000409709.9 | c.6214G>T | p.Val2072Phe | missense_variant | Exon 45 of 49 | 1 | NM_000260.4 | ENSP00000386331.3 | ||
MYO7A | ENST00000458637.6 | c.6100G>T | p.Val2034Phe | missense_variant | Exon 45 of 49 | 1 | ENSP00000392185.2 | |||
MYO7A | ENST00000409619.6 | c.6067G>T | p.Val2023Phe | missense_variant | Exon 46 of 50 | 1 | ENSP00000386635.2 | |||
MYO7A | ENST00000458169.2 | c.3640G>T | p.Val1214Phe | missense_variant | Exon 25 of 29 | 1 | ENSP00000417017.2 | |||
MYO7A | ENST00000670577.1 | n.*786G>T | non_coding_transcript_exon_variant | Exon 28 of 32 | ENSP00000499323.1 | |||||
MYO7A | ENST00000670577 | n.*786G>T | 3_prime_UTR_variant | Exon 28 of 30 | ENSP00000499323.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1431316Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 708970
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at