rs175110
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000664141.1(LINC02954):n.402+1344G>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 0.00021 in 152,036 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000664141.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105369325 | XR_950154.3 | n.63-26742C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02954 | ENST00000664141.1 | n.402+1344G>A | intron_variant, non_coding_transcript_variant | ||||||
LINC02954 | ENST00000536495.1 | n.57+1344G>A | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC02954 | ENST00000659437.1 | n.206+1344G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000204 AC: 31AN: 151918Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.000210 AC: 32AN: 152036Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74310
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at