chr3-66380453-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_015541.3(LRIG1):c.3092C>G(p.Pro1031Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0459 in 1,614,004 control chromosomes in the GnomAD database, including 2,405 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_015541.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRIG1 | NM_015541.3 | c.3092C>G | p.Pro1031Arg | missense_variant | 19/19 | ENST00000273261.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRIG1 | ENST00000273261.8 | c.3092C>G | p.Pro1031Arg | missense_variant | 19/19 | 1 | NM_015541.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0749 AC: 11386AN: 152038Hom.: 571 Cov.: 33
GnomAD3 exomes AF: 0.0539 AC: 13427AN: 249332Hom.: 536 AF XY: 0.0496 AC XY: 6694AN XY: 134874
GnomAD4 exome AF: 0.0429 AC: 62680AN: 1461848Hom.: 1835 Cov.: 33 AF XY: 0.0423 AC XY: 30745AN XY: 727226
GnomAD4 genome ? AF: 0.0749 AC: 11393AN: 152156Hom.: 570 Cov.: 33 AF XY: 0.0765 AC XY: 5689AN XY: 74404
ClinVar
Submissions by phenotype
LRIG1-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 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). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at