NM_001393586.1:c.494C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001393586.1(MYO7B):c.494C>T(p.Thr165Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000362 in 1,612,756 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001393586.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO7B | NM_001393586.1 | c.494C>T | p.Thr165Met | missense_variant | Exon 6 of 48 | ENST00000409816.8 | NP_001380515.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO7B | ENST00000409816.8 | c.494C>T | p.Thr165Met | missense_variant | Exon 6 of 48 | 1 | NM_001393586.1 | ENSP00000386461.3 | ||
MYO7B | ENST00000428314.5 | c.494C>T | p.Thr165Met | missense_variant | Exon 6 of 47 | 5 | ENSP00000415090.1 |
Frequencies
GnomAD3 genomes AF: 0.000289 AC: 44AN: 152112Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000419 AC: 104AN: 248200Hom.: 0 AF XY: 0.000371 AC XY: 50AN XY: 134724
GnomAD4 exome AF: 0.000370 AC: 540AN: 1460526Hom.: 0 Cov.: 30 AF XY: 0.000314 AC XY: 228AN XY: 726516
GnomAD4 genome AF: 0.000289 AC: 44AN: 152230Hom.: 0 Cov.: 32 AF XY: 0.000322 AC XY: 24AN XY: 74428
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.494C>T (p.T165M) alteration is located in exon 6 (coding exon 5) of the MYO7B gene. This alteration results from a C to T substitution at nucleotide position 494, causing the threonine (T) at amino acid position 165 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at