rs241404
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_037177.1(LOC100294145):n.852-2700T>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 0.416 in 151,984 control chromosomes in the GnomAD database, including 13,457 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_037177.1 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 |
---|---|---|---|---|---|---|---|
LOC100294145 | NR_037177.1 | n.852-2700T>C | intron_variant, non_coding_transcript_variant | ||||
LOC100294145 | NR_037178.1 | n.753-2700T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000701517.1 | n.630-2700T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000685247.2 | n.714-2700T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.417 AC: 63262AN: 151866Hom.: 13458 Cov.: 31
GnomAD4 genome AF: 0.416 AC: 63281AN: 151984Hom.: 13457 Cov.: 31 AF XY: 0.411 AC XY: 30544AN XY: 74292
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at