rs4699748
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_939020.3(LOC102723576):n.1284+2547C>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 0.126 in 152,106 control chromosomes in the GnomAD database, including 1,239 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
Consequence
XR_939020.3 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC102723576 | XR_939020.3 | n.1284+2547C>T | intron_variant, non_coding_transcript_variant | ||||
LOC102723576 | XR_001741777.2 | n.387+2547C>T | intron_variant, non_coding_transcript_variant | ||||
LOC102723576 | XR_427569.4 | n.1284+2547C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.126 AC: 19159AN: 151988Hom.: 1233 Cov.: 32
GnomAD4 genome ? AF: 0.126 AC: 19193AN: 152106Hom.: 1239 Cov.: 32 AF XY: 0.129 AC XY: 9562AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at