15-71826660-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006901.4(MYO9A):c.7567G>T(p.Gly2523Cys) 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. Variant has been reported in ClinVar as Uncertain significance (★).
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
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO9A | ENST00000356056.10 | c.7567G>T | p.Gly2523Cys | missense_variant | Exon 42 of 42 | 1 | NM_006901.4 | ENSP00000348349.5 | ||
MYO9A | ENST00000561618.5 | c.4114G>T | p.Gly1372Cys | missense_variant | Exon 19 of 19 | 1 | ENSP00000457945.1 | |||
MYO9A | ENST00000564571 | c.*372G>T | 3_prime_UTR_variant | Exon 42 of 42 | 1 | ENSP00000456192.1 | ||||
MYO9A | ENST00000568042.5 | c.1309G>T | p.Gly437Cys | missense_variant | Exon 9 of 9 | 5 | ENSP00000457407.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.7567G>T (p.G2523C) alteration is located in exon 42 (coding exon 41) of the MYO9A gene. This alteration results from a G to T substitution at nucleotide position 7567, causing the glycine (G) at amino acid position 2523 to be replaced by a cysteine (C). 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
Publications
No publications associated with this variant yet.