rs609438
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000635999.1(LINC03004):n.433+27981C>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 0.568 in 152,002 control chromosomes in the GnomAD database, including 25,322 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
ENST00000635999.1 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC03004 | ENST00000635999.1 | n.433+27981C>A | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC03004 | ENST00000646621.1 | n.601+13416C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.568 AC: 86262AN: 151884Hom.: 25300 Cov.: 31
GnomAD4 genome ? AF: 0.568 AC: 86326AN: 152002Hom.: 25322 Cov.: 31 AF XY: 0.572 AC XY: 42522AN XY: 74300
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at