rs7531118
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000665984.1(ENSG00000286863):n.153+88151T>C 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 0.402 in 152,118 control chromosomes in the GnomAD database, including 15,213 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105378797 | XR_001737670.2 | n.472+88151T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378797 | XR_001737671.3 | n.472+88151T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378797 | XR_947505.3 | n.472+88151T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378797 | XR_947506.3 | n.472+88151T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000665984.1 | n.153+88151T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000653965.1 | n.236+88151T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000667836.1 | n.227+88151T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000688733.1 | n.56+88151T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.402 AC: 61089AN: 152000Hom.: 15214 Cov.: 32
GnomAD4 genome ? AF: 0.402 AC: 61095AN: 152118Hom.: 15213 Cov.: 32 AF XY: 0.404 AC XY: 30029AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at