rs10249851
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000665884.1(ENSG00000232930):n.386-7737A>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 0.061 in 152,250 control chromosomes in the GnomAD database, including 393 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 -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105375233 | XR_927174.3 | n.386-7737A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000665884.1 | n.386-7737A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000667088.1 | n.68+6233T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000664385.1 | n.119-7737A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0609 AC: 9266AN: 152132Hom.: 391 Cov.: 32
GnomAD4 genome ? AF: 0.0610 AC: 9284AN: 152250Hom.: 393 Cov.: 32 AF XY: 0.0599 AC XY: 4459AN XY: 74450
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at