rs6975345
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001102386.3(GNAT3):c.119-36A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.152 in 1,219,388 control chromosomes in the GnomAD database, including 24,585 homozygotes. 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
Genomes: 𝑓 0.27 ( 10283 hom., cov: 32)
Exomes 𝑓: 0.13 ( 14302 hom. )
Consequence
GNAT3
NM_001102386.3 intron
NM_001102386.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.95
Genes affected
GNAT3 (HGNC:22800): (G protein subunit alpha transducin 3) Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015]
CD36 (HGNC:1663): (CD36 molecule (CD36 blood group)) The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.662 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GNAT3 | NM_001102386.3 | c.119-36A>G | intron_variant | ENST00000398291.4 | |||
LOC107986812 | XR_001745252.2 | n.217+6902T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GNAT3 | ENST00000398291.4 | c.119-36A>G | intron_variant | 1 | NM_001102386.3 | P1 | |||
CD36 | ENST00000435819.5 | c.-261+6902T>C | intron_variant | 2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.272 AC: 41382AN: 152020Hom.: 10253 Cov.: 32
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GnomAD3 exomes AF: 0.151 AC: 24619AN: 163108Hom.: 3384 AF XY: 0.145 AC XY: 12433AN XY: 85938
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GnomAD4 exome AF: 0.135 AC: 143706AN: 1067250Hom.: 14302 Cov.: 14 AF XY: 0.132 AC XY: 71681AN XY: 541684
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GnomAD4 genome ? AF: 0.273 AC: 41466AN: 152138Hom.: 10283 Cov.: 32 AF XY: 0.265 AC XY: 19695AN XY: 74370
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at