chr10-37219522-A-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_052997.3(ANKRD30A):c.3810A>T(p.Ala1270Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,458,990 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_052997.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD30A | ENST00000361713.2 | c.3810A>T | p.Ala1270Ala | synonymous_variant | 34/36 | 5 | NM_052997.3 | ENSP00000354432.2 | ||
ANKRD30A | ENST00000374660.7 | c.4167A>T | p.Ala1389Ala | synonymous_variant | 40/42 | 5 | ENSP00000363792.2 | |||
ANKRD30A | ENST00000602533.7 | c.3810A>T | p.Ala1270Ala | synonymous_variant | 34/36 | 5 | ENSP00000473551.2 | |||
ANKRD30A | ENST00000696674.1 | c.543A>T | p.Ala181Ala | synonymous_variant | 1/2 | ENSP00000512798.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 150674Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458990Hom.: 0 Cov.: 67 AF XY: 0.00 AC XY: 0AN XY: 725784
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 150792Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73678
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at