NM_006767.4:c.791+91A>G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_006767.4(LZTR1):c.791+91A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.756 in 1,359,724 control chromosomes in the GnomAD database, including 389,877 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006767.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LZTR1 | NM_006767.4 | c.791+91A>G | intron_variant | Intron 8 of 20 | ENST00000646124.2 | NP_006758.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.738 AC: 112158AN: 152012Hom.: 41636 Cov.: 33
GnomAD4 exome AF: 0.758 AC: 915037AN: 1207594Hom.: 348206 Cov.: 16 AF XY: 0.753 AC XY: 452278AN XY: 600566
GnomAD4 genome AF: 0.738 AC: 112244AN: 152130Hom.: 41671 Cov.: 33 AF XY: 0.735 AC XY: 54666AN XY: 74360
ClinVar
Submissions by phenotype
not provided Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at