rs9402914
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000635999.1(LINC03004):n.433+1538T>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 0.274 in 152,064 control chromosomes in the GnomAD database, including 5,898 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC03004 | ENST00000635999.1 | n.433+1538T>A | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC03004 | ENST00000638039.1 | n.438+1538T>A | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC03004 | ENST00000646621.1 | n.414+1538T>A | intron_variant, non_coding_transcript_variant | ||||||
LINC03004 | ENST00000666119.1 | n.392+1538T>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.274 AC: 41664AN: 151946Hom.: 5895 Cov.: 32
GnomAD4 genome ? AF: 0.274 AC: 41674AN: 152064Hom.: 5898 Cov.: 32 AF XY: 0.283 AC XY: 21001AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at