rs10498043
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_037195.1(LINC00607):n.723+27897C>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 0.533 in 151,922 control chromosomes in the GnomAD database, including 24,809 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
NR_037195.1 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 |
---|---|---|---|---|---|---|---|
LINC00607 | NR_037195.1 | n.723+27897C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000417485.6 | n.987-260G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
LINC00607 | ENST00000445174.5 | n.723+27897C>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.533 AC: 80953AN: 151806Hom.: 24816 Cov.: 31
GnomAD4 genome ? AF: 0.533 AC: 80940AN: 151922Hom.: 24809 Cov.: 31 AF XY: 0.528 AC XY: 39208AN XY: 74224
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at