rs1951319
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000666179.1(LINC00871):n.176+29823G>T 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 0.426 in 151,590 control chromosomes in the GnomAD database, including 14,390 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
ENST00000666179.1 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC00871 | ENST00000666179.1 | n.176+29823G>T | intron_variant, non_coding_transcript_variant | ||||||
LINC00871 | ENST00000555246.5 | n.76+29823G>T | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC00871 | ENST00000664642.1 | n.185+29823G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.426 AC: 64548AN: 151470Hom.: 14377 Cov.: 33
GnomAD4 genome AF: 0.426 AC: 64580AN: 151590Hom.: 14390 Cov.: 33 AF XY: 0.422 AC XY: 31246AN XY: 74046
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at