3-66380387-T-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000273261.8(LRIG1):āc.3158A>Cā(p.Gln1053Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.186 in 1,614,060 control chromosomes in the GnomAD database, including 29,674 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000273261.8 missense
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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LRIG1 | NM_015541.3 | c.3158A>C | p.Gln1053Pro | missense_variant | 19/19 | ENST00000273261.8 | NP_056356.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LRIG1 | ENST00000273261.8 | c.3158A>C | p.Gln1053Pro | missense_variant | 19/19 | 1 | NM_015541.3 | ENSP00000273261 | P1 |
Frequencies
GnomAD3 genomes AF: 0.159 AC: 24171AN: 152088Hom.: 2217 Cov.: 32
GnomAD3 exomes AF: 0.160 AC: 40208AN: 251116Hom.: 3651 AF XY: 0.162 AC XY: 22047AN XY: 135712
GnomAD4 exome AF: 0.189 AC: 275573AN: 1461854Hom.: 27458 Cov.: 33 AF XY: 0.187 AC XY: 135884AN XY: 727240
GnomAD4 genome AF: 0.159 AC: 24168AN: 152206Hom.: 2216 Cov.: 32 AF XY: 0.157 AC XY: 11658AN XY: 74402
ClinVar
Submissions by phenotype
LRIG1-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 21, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 29, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - |
not provided Benign:1
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at