16-49108595-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000655430.1(ENSG00000287469):n.268+5381A>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 0.19 in 152,144 control chromosomes in the GnomAD database, including 3,286 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 |
---|---|---|---|---|---|---|---|
LOC105371241 | XR_001752138.3 | n.591+5381A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105371241 | XR_933517.3 | n.810+1349A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000655430.1 | n.268+5381A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000659681.1 | n.260+5381A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.190 AC: 28924AN: 152024Hom.: 3279 Cov.: 32
GnomAD4 genome AF: 0.190 AC: 28930AN: 152144Hom.: 3286 Cov.: 32 AF XY: 0.194 AC XY: 14399AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at