chr7-127511269-C-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007060511.1(LOC105375490):n.175-2031G>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 0.386 in 151,972 control chromosomes in the GnomAD database, including 13,396 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_007060511.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105375490 | XR_007060511.1 | n.175-2031G>T | intron_variant, non_coding_transcript_variant | |||||
LOC105375490 | XR_001745351.2 | n.2292-2031G>T | intron_variant, non_coding_transcript_variant | |||||
LOC105375490 | XR_001745352.2 | n.494-2031G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
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Frequencies
GnomAD3 genomes AF: 0.386 AC: 58624AN: 151850Hom.: 13380 Cov.: 32
GnomAD4 genome AF: 0.386 AC: 58647AN: 151972Hom.: 13396 Cov.: 32 AF XY: 0.394 AC XY: 29246AN XY: 74282
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at