rs6599695
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000662754.1(LINC02641):n.337+47240A>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 0.512 in 152,144 control chromosomes in the GnomAD database, including 22,193 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
ENST00000662754.1 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 |
---|---|---|---|---|---|---|---|
LINC02641 | XR_007062326.1 | n.8910-40563A>C | intron_variant, non_coding_transcript_variant | ||||
LINC02641 | XR_002957104.1 | n.6363-40563A>C | intron_variant, non_coding_transcript_variant | ||||
LINC02641 | XR_002957105.1 | n.5694-40563A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02641 | ENST00000662754.1 | n.337+47240A>C | intron_variant, non_coding_transcript_variant | ||||||
LINC02641 | ENST00000448347.5 | n.587-40563A>C | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC02641 | ENST00000448671.2 | n.539-40563A>C | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC02641 | ENST00000671662.1 | n.824+46643A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.512 AC: 77848AN: 152026Hom.: 22161 Cov.: 33
GnomAD4 genome ? AF: 0.512 AC: 77931AN: 152144Hom.: 22193 Cov.: 33 AF XY: 0.505 AC XY: 37564AN XY: 74376
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at