14-39535687-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000652126.1(ENSG00000258526):n.152+65287A>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 0.103 in 152,202 control chromosomes in the GnomAD database, including 1,010 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 |
---|---|---|---|---|---|---|---|
LOC105370461 | XR_001750723.2 | n.166+65287A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000652126.1 | n.152+65287A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000650911.1 | n.112+65287A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000651829.1 | n.566+2834A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000662828.1 | n.114+65287A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.103 AC: 15698AN: 152084Hom.: 1010 Cov.: 32
GnomAD4 genome AF: 0.103 AC: 15693AN: 152202Hom.: 1010 Cov.: 32 AF XY: 0.101 AC XY: 7504AN XY: 74404
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at