rs7435274
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001741714.2(LOC105377265):n.3048-145T>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 0.461 in 151,992 control chromosomes in the GnomAD database, including 17,583 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_001741714.2 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 |
---|---|---|---|---|---|---|---|
LOC105377265 | XR_001741714.2 | n.3048-145T>G | intron_variant, non_coding_transcript_variant | ||||
LOC105377265 | XR_938851.2 | n.316-145T>G | intron_variant, non_coding_transcript_variant | ||||
LOC105377265 | XR_938852.2 | n.316-253T>G | intron_variant, non_coding_transcript_variant | ||||
LOC105377265 | XR_938854.2 | n.298-145T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.461 AC: 69966AN: 151872Hom.: 17558 Cov.: 32
GnomAD4 genome ? AF: 0.461 AC: 70035AN: 151992Hom.: 17583 Cov.: 32 AF XY: 0.461 AC XY: 34230AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at