rs532003876
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_021167.5(GATAD1):āc.96T>Cā(p.His32=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000272 in 1,471,778 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_021167.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GATAD1 | NM_021167.5 | c.96T>C | p.His32= | synonymous_variant | 1/5 | ENST00000287957.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GATAD1 | ENST00000287957.5 | c.96T>C | p.His32= | synonymous_variant | 1/5 | 1 | NM_021167.5 | P1 | |
GATAD1 | ENST00000645746.1 | c.96T>C | p.His32= | synonymous_variant, NMD_transcript_variant | 1/6 | ||||
TMBIM7P | ENST00000641474.1 | upstream_gene_variant | |||||||
GATAD1 | ENST00000644160.1 | upstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152108Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000227 AC: 3AN: 1319670Hom.: 0 Cov.: 31 AF XY: 0.00000154 AC XY: 1AN XY: 650646
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152108Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at