rs1921832
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007060223.1(LOC105375168):n.410+7276C>T 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 0.026 in 152,070 control chromosomes in the GnomAD database, including 70 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
XR_007060223.1 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC105375168 | XR_007060223.1 | n.410+7276C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRPPA | ENST00000674759.1 | c.-46-35326G>A | intron_variant | ||||||
CRPPA | ENST00000675257.1 | c.-46-35326G>A | intron_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0260 AC: 3956AN: 151952Hom.: 70 Cov.: 32
GnomAD4 genome ? AF: 0.0260 AC: 3958AN: 152070Hom.: 70 Cov.: 32 AF XY: 0.0272 AC XY: 2024AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at