chr11-71450017-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000529369.2(DHCR7-DT):n.324+1132A>G 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 0.588 in 152,122 control chromosomes in the GnomAD database, including 28,437 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
ENST00000529369.2 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DHCR7-DT | ENST00000529369.2 | n.324+1132A>G | intron_variant, non_coding_transcript_variant | 2 | ||||||
DHCR7 | ENST00000527452.1 | c.-131-2283T>C | intron_variant | 4 | ENSP00000436007 |
Frequencies
GnomAD3 genomes AF: 0.588 AC: 89414AN: 152004Hom.: 28411 Cov.: 32
GnomAD4 genome AF: 0.588 AC: 89489AN: 152122Hom.: 28437 Cov.: 32 AF XY: 0.571 AC XY: 42478AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at