rs9350989
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_174604.1(RIPPLY2-CYB5R4):n.296+3645A>C 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 0.178 in 152,056 control chromosomes in the GnomAD database, including 5,020 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_174604.1 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 |
---|---|---|---|---|---|---|---|
RIPPLY2-CYB5R4 | NR_174604.1 | n.296+3645A>C | intron_variant, non_coding_transcript_variant | ||||
RIPPLY2-CYB5R4 | NM_001400774.1 | c.-28+3645A>C | intron_variant | ||||
RIPPLY2-CYB5R4 | NR_174603.1 | n.234+3645A>C | intron_variant, non_coding_transcript_variant | ||||
RIPPLY2-CYB5R4 | NR_174605.1 | n.455+3747A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.178 AC: 26998AN: 151940Hom.: 5002 Cov.: 33
GnomAD4 genome ? AF: 0.178 AC: 27074AN: 152056Hom.: 5020 Cov.: 33 AF XY: 0.177 AC XY: 13179AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at