rs603092
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000635954.1(ENSG00000228408):n.303+3179G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.207 in 152,150 control chromosomes in the GnomAD database, including 3,402 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
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAB2 | NM_001292035.3 | c.6+3179G>A | intron_variant | ||||
TAB2 | NR_125861.2 | n.313+3179G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000635954.1 | n.303+3179G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
TAB2 | ENST00000606202.1 | c.-121+3179G>A | intron_variant | 4 | |||||
ENST00000443992.1 | n.238+3179G>A | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000445901.1 | n.79+3179G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.208 AC: 31551AN: 152032Hom.: 3406 Cov.: 32
GnomAD4 genome ? AF: 0.207 AC: 31555AN: 152150Hom.: 3402 Cov.: 32 AF XY: 0.206 AC XY: 15344AN XY: 74378
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at