rs1993709
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000665984.1(ENSG00000286863):n.153+89441A>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 0.00000657 in 152,160 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105378797 | XR_001737670.2 | n.472+89441A>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378797 | XR_001737671.3 | n.472+89441A>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378797 | XR_947505.3 | n.472+89441A>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378797 | XR_947506.3 | n.472+89441A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000665984.1 | n.153+89441A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000653965.1 | n.237-89347A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000667836.1 | n.228-89347A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000688733.1 | n.57-89347A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152042Hom.: 0 Cov.: 31
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152160Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at