rs16960516
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000662551.1(ENSG00000259754):n.252-11445A>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 0.0562 in 152,292 control chromosomes in the GnomAD database, including 348 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 |
---|---|---|---|---|---|---|---|
LOC124900354 | XR_001751516.3 | n.206-11445A>G | intron_variant, non_coding_transcript_variant | ||||
LOC124900354 | XR_001751518.3 | n.146-11445A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000662551.1 | n.252-11445A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000560900.1 | n.259-11445A>G | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000665188.1 | n.221-11492A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0563 AC: 8566AN: 152174Hom.: 350 Cov.: 32
GnomAD4 genome ? AF: 0.0562 AC: 8562AN: 152292Hom.: 348 Cov.: 32 AF XY: 0.0588 AC XY: 4381AN XY: 74460
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at