15-71826744-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006901.4(MYO9A):c.7483C>A(p.Pro2495Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000682 in 1,613,946 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 (★). Synonymous variant affecting the same amino acid position (i.e. P2495P) has been classified as Likely benign.
Frequency
Consequence
NM_006901.4 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 |
---|---|---|---|---|---|---|---|
MYO9A | NM_006901.4 | c.7483C>A | p.Pro2495Thr | missense_variant | 42/42 | ENST00000356056.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO9A | ENST00000356056.10 | c.7483C>A | p.Pro2495Thr | missense_variant | 42/42 | 1 | NM_006901.4 | P2 | |
MYO9A | ENST00000561618.5 | c.4033C>A | p.Pro1345Thr | missense_variant | 19/19 | 1 | |||
MYO9A | ENST00000564571.5 | c.*288C>A | 3_prime_UTR_variant | 42/42 | 1 | A2 | |||
MYO9A | ENST00000568042.5 | c.1228C>A | p.Pro410Thr | missense_variant | 9/9 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251344Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135838
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461800Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727212
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at