rs4618379
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001741714.2(LOC105377265):n.3242-445A>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 0.201 in 152,014 control chromosomes in the GnomAD database, including 3,232 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.3242-445A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105377265 | XR_938851.2 | n.510-445A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105377265 | XR_938852.2 | n.402-445A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105377265 | XR_938854.2 | n.492-445A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.201 AC: 30571AN: 151896Hom.: 3231 Cov.: 32
GnomAD4 genome ? AF: 0.201 AC: 30588AN: 152014Hom.: 3232 Cov.: 32 AF XY: 0.201 AC XY: 14905AN XY: 74312
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at