rs1936488
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000627225.2(LINC01435):n.165-38383A>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 0.322 in 151,980 control chromosomes in the GnomAD database, including 8,028 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
ENST00000627225.2 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01435 | ENST00000627225.2 | n.165-38383A>C | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC01435 | ENST00000629275.2 | n.115-38383A>C | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC01435 | ENST00000631100.1 | n.64+17921A>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.322 AC: 48854AN: 151864Hom.: 8008 Cov.: 32
GnomAD4 genome ? AF: 0.322 AC: 48902AN: 151980Hom.: 8028 Cov.: 32 AF XY: 0.320 AC XY: 23742AN XY: 74282
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at