NM_004993.6:c.891A>C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004993.6(ATXN3):āc.891A>Cā(p.Gln297His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 537,314 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. Synonymous variant affecting the same amino acid position (i.e. Q297Q) has been classified as Likely benign.
Frequency
Consequence
NM_004993.6 missense
Scores
Clinical Significance
Conservation
Publications
- Machado-Joseph diseaseInheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Ambry Genetics, Laboratory for Molecular Medicine, Labcorp Genetics (formerly Invitae)
- Machado-Joseph disease type 1Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- Machado-Joseph disease type 2Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- Machado-Joseph disease type 3Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD4 exome AF: 0.00000186 AC: 1AN: 537314Hom.: 0 Cov.: 47 AF XY: 0.00 AC XY: 0AN XY: 270022 show subpopulations
Age Distribution
GnomAD4 genome Cov.: 0
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at