rs2709377
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000412387.5(ENSG00000223725):n.84+529A>T 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 0.157 in 152,046 control chromosomes in the GnomAD database, including 2,084 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 |
---|---|---|---|---|---|---|---|
LOC124907970 | XR_007088060.1 | n.162+253A>T | intron_variant, non_coding_transcript_variant | ||||
LOC124907970 | XR_007088059.1 | n.415A>T | non_coding_transcript_exon_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000412387.5 | n.84+529A>T | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000418850.1 | n.80+529A>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.158 AC: 23946AN: 151928Hom.: 2084 Cov.: 30
GnomAD4 genome AF: 0.157 AC: 23947AN: 152046Hom.: 2084 Cov.: 30 AF XY: 0.153 AC XY: 11370AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at