rs7013599
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_038201.1(CFAP418-AS1):n.315+62370A>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 0.422 in 152,078 control chromosomes in the GnomAD database, including 14,093 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_038201.1 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 |
---|---|---|---|---|---|---|---|
CFAP418-AS1 | NR_038201.1 | n.315+62370A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP418-AS1 | ENST00000655917.1 | n.330+62370A>G | intron_variant, non_coding_transcript_variant | ||||||
CFAP418-AS1 | ENST00000517437.1 | n.178+62370A>G | intron_variant, non_coding_transcript_variant | 3 | |||||
CFAP418-AS1 | ENST00000664790.1 | n.34+62370A>G | intron_variant, non_coding_transcript_variant | ||||||
CFAP418-AS1 | ENST00000671532.1 | n.257+62370A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.422 AC: 64194AN: 151960Hom.: 14095 Cov.: 32
GnomAD4 genome ? AF: 0.422 AC: 64217AN: 152078Hom.: 14093 Cov.: 32 AF XY: 0.420 AC XY: 31239AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at