rs2030889
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000667197.1(C5orf64):n.701-2492G>A 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 0.147 in 152,130 control chromosomes in the GnomAD database, including 1,774 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
ENST00000667197.1 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 |
---|---|---|---|---|---|---|---|
LOC124900983 | XR_007058783.1 | n.409-2492G>A | intron_variant, non_coding_transcript_variant | ||||
LOC124900983 | XR_007058782.1 | n.301+1570G>A | intron_variant, non_coding_transcript_variant | ||||
LOC124900983 | XR_007058784.1 | n.201-2492G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C5orf64 | ENST00000667197.1 | n.701-2492G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.147 AC: 22345AN: 152012Hom.: 1777 Cov.: 32
GnomAD4 genome AF: 0.147 AC: 22351AN: 152130Hom.: 1774 Cov.: 32 AF XY: 0.144 AC XY: 10673AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at