rs754965302
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_021167.5(GATAD1):c.466T>G(p.Ser156Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,460,400 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. S156S) has been classified as Likely benign.
Frequency
Consequence
NM_021167.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GATAD1 | NM_021167.5 | c.466T>G | p.Ser156Ala | missense_variant | 4/5 | ENST00000287957.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GATAD1 | ENST00000287957.5 | c.466T>G | p.Ser156Ala | missense_variant | 4/5 | 1 | NM_021167.5 | P1 | |
GATAD1 | ENST00000493878.1 | n.1074T>G | non_coding_transcript_exon_variant | 2/3 | 1 | ||||
GATAD1 | ENST00000465247.1 | n.478T>G | non_coding_transcript_exon_variant | 1/2 | 2 | ||||
GATAD1 | ENST00000645746.1 | c.*57T>G | 3_prime_UTR_variant, NMD_transcript_variant | 5/6 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251290Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135808
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460400Hom.: 0 Cov.: 29 AF XY: 0.00000275 AC XY: 2AN XY: 726622
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Dilated cardiomyopathy 2B Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 16, 2022 | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 411577). This variant has not been reported in the literature in individuals affected with GATAD1-related conditions. This variant is present in population databases (rs754965302, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 156 of the GATAD1 protein (p.Ser156Ala). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at