rs3091307
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000435042.1(TH2LCRR):n.94+10735T>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 0.332 in 152,140 control chromosomes in the GnomAD database, including 10,902 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
ENST00000435042.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TH2LCRR | NR_132125.1 | n.104+2607T>C | intron_variant, non_coding_transcript_variant | |||||
TH2LCRR | NR_132126.1 | n.174+2275T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TH2LCRR | ENST00000435042.1 | n.94+10735T>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
TH2LCRR | ENST00000458509.1 | n.104+2607T>C | intron_variant, non_coding_transcript_variant | 1 | ||||||
TH2LCRR | ENST00000417516.1 | n.174+2275T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.331 AC: 50360AN: 152022Hom.: 10861 Cov.: 32
GnomAD4 genome AF: 0.332 AC: 50451AN: 152140Hom.: 10902 Cov.: 32 AF XY: 0.329 AC XY: 24467AN XY: 74404
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at