rs1421881390
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The XM_047439473.1(LOC124900417):c.9C>T(p.Pro3=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000067 in 149,244 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
XM_047439473.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC124900417 | XM_047439473.1 | c.9C>T | p.Pro3= | synonymous_variant | 1/2 | XP_047295429.1 | ||
ARID1A | NM_006015.6 | c.-7G>A | 5_prime_UTR_variant | 1/20 | ENST00000324856.13 | NP_006006.3 | ||
ARID1A | NM_139135.4 | c.-7G>A | 5_prime_UTR_variant | 1/20 | NP_624361.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARID1A | ENST00000324856.13 | c.-7G>A | 5_prime_UTR_variant | 1/20 | 1 | NM_006015.6 | ENSP00000320485 | |||
ARID1A | ENST00000430799.7 | c.-13+2780G>A | intron_variant | 5 | ENSP00000390317 | A2 | ||||
ARID1A | ENST00000637465.1 | c.-13+297G>A | intron_variant | 5 | ENSP00000490650 | |||||
ARID1A | ENST00000457599.6 | upstream_gene_variant | 5 | ENSP00000387636 |
Frequencies
GnomAD3 genomes AF: 0.00000670 AC: 1AN: 149244Hom.: 0 Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1123120Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 543270
GnomAD4 genome AF: 0.00000670 AC: 1AN: 149244Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 72860
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at