rs9507041
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000414345.2(LINC00362):n.47-188G>A 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 0.122 in 152,152 control chromosomes in the GnomAD database, including 1,185 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
ENST00000414345.2 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 |
---|---|---|---|---|---|---|---|
LINC00362 | XR_007063718.1 | n.322-188G>A | intron_variant, non_coding_transcript_variant | ||||
SGCG | NM_001378244.1 | c.54+9594C>T | intron_variant | ||||
SGCG | XM_047430542.1 | c.54+9594C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC00362 | ENST00000414345.2 | n.47-188G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.122 AC: 18553AN: 152034Hom.: 1186 Cov.: 33
GnomAD4 genome ? AF: 0.122 AC: 18562AN: 152152Hom.: 1185 Cov.: 33 AF XY: 0.120 AC XY: 8921AN XY: 74388
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at