rs2242150
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_130384.3(ATRIP):c.1975-17A>C variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.561 in 1,612,758 control chromosomes in the GnomAD database, including 256,364 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
NM_130384.3 splice_polypyrimidine_tract, 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 |
---|---|---|---|---|---|---|---|
ATRIP | NM_130384.3 | c.1975-17A>C | splice_polypyrimidine_tract_variant, intron_variant | ENST00000320211.10 | |||
ATRIP-TREX1 | NR_153405.1 | n.2127-17A>C | splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATRIP | ENST00000320211.10 | c.1975-17A>C | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_130384.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.567 AC: 86072AN: 151894Hom.: 24499 Cov.: 32
GnomAD4 exome AF: 0.560 AC: 818311AN: 1460744Hom.: 231845 Cov.: 41 AF XY: 0.562 AC XY: 408417AN XY: 726702
GnomAD4 genome ? AF: 0.567 AC: 86136AN: 152014Hom.: 24519 Cov.: 32 AF XY: 0.573 AC XY: 42601AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at