chr10-8053377-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XM_005252442.3(GATA3):c.-771G>A variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.451 in 152,110 control chromosomes in the GnomAD database, including 17,256 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
Consequence
XM_005252442.3 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GATA3 | XM_005252442.3 | c.-771G>A | 5_prime_UTR_premature_start_codon_gain_variant | 2/7 | XP_005252499.1 | |||
GATA3 | XM_047425044.1 | c.-771G>A | 5_prime_UTR_premature_start_codon_gain_variant | 2/7 | XP_047281000.1 | |||
GATA3 | XM_005252442.3 | c.-771G>A | 5_prime_UTR_variant | 2/7 | XP_005252499.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GATA3-AS1 | ENST00000458727.1 | n.73C>T | non_coding_transcript_exon_variant | 1/2 | 1 | |||||
GATA3 | ENST00000643001.1 | c.-369-1910G>A | intron_variant | ENSP00000494284.1 | ||||||
GATA3-AS1 | ENST00000355358.1 | n.108C>T | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.451 AC: 68542AN: 151976Hom.: 17247 Cov.: 32
GnomAD4 exome AF: 0.500 AC: 8AN: 16Hom.: 3 Cov.: 0 AF XY: 0.500 AC XY: 4AN XY: 8
GnomAD4 genome AF: 0.451 AC: 68549AN: 152094Hom.: 17253 Cov.: 32 AF XY: 0.452 AC XY: 33629AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at