rs2652834
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000665500.1(ENSG00000259672):n.260-417A>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 0.0036 in 152,038 control chromosomes in the GnomAD database, including 3 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000665500.1 | n.260-417A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000560238.1 | n.112-417A>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000648659.1 | n.434-417A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000656894.1 | n.3-417A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.00361 AC: 548AN: 151920Hom.: 3 Cov.: 30
GnomAD4 genome AF: 0.00360 AC: 547AN: 152038Hom.: 3 Cov.: 30 AF XY: 0.00351 AC XY: 261AN XY: 74328
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at