rs4321841
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_161205.1(CCDC28A-AS1):n.311+8624A>G 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 0.607 in 152,000 control chromosomes in the GnomAD database, including 29,829 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
NR_161205.1 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 |
---|---|---|---|---|---|---|---|
CCDC28A-AS1 | NR_161205.1 | n.311+8624A>G | intron_variant, non_coding_transcript_variant | ||||
CCDC28A-AS1 | NR_161203.1 | n.312-5364A>G | intron_variant, non_coding_transcript_variant | ||||
CCDC28A-AS1 | NR_161204.1 | n.619+8624A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC28A-AS1 | ENST00000624173.1 | n.261-5364A>G | intron_variant, non_coding_transcript_variant | 2 | |||||
CCDC28A-AS1 | ENST00000615663.2 | n.430+384A>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.607 AC: 92209AN: 151882Hom.: 29799 Cov.: 32
GnomAD4 genome AF: 0.607 AC: 92296AN: 152000Hom.: 29829 Cov.: 32 AF XY: 0.610 AC XY: 45314AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at