rs10521932
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001330360.2(POLA1):c.4262-29283G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0461 in 111,903 control chromosomes in the GnomAD database, including 232 homozygotes. There are 1,382 hemizygotes in GnomAD. 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
NM_001330360.2 intron
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 | UniProt |
---|---|---|---|---|---|---|---|
POLA1 | NM_001330360.2 | c.4262-29283G>A | intron_variant | ENST00000379068.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLA1 | ENST00000379068.8 | c.4262-29283G>A | intron_variant | 5 | NM_001330360.2 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0460 AC: 5149AN: 111852Hom.: 231 Cov.: 23 AF XY: 0.0403 AC XY: 1371AN XY: 34060
GnomAD4 genome ? AF: 0.0461 AC: 5163AN: 111903Hom.: 232 Cov.: 23 AF XY: 0.0405 AC XY: 1382AN XY: 34121
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at