rs1776148
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_130398.4(EXO1):c.2009A>G(p.Glu670Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.645 in 1,595,848 control chromosomes in the GnomAD database, including 333,187 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 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_130398.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EXO1 | NM_130398.4 | c.2009A>G | p.Glu670Gly | missense_variant | 13/16 | ENST00000366548.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EXO1 | ENST00000366548.8 | c.2009A>G | p.Glu670Gly | missense_variant | 13/16 | 1 | NM_130398.4 | P2 | |
EXO1 | ENST00000348581.9 | c.2009A>G | p.Glu670Gly | missense_variant | 11/14 | 1 | P2 | ||
EXO1 | ENST00000518483.5 | c.2009A>G | p.Glu670Gly | missense_variant | 11/14 | 1 | A2 | ||
EXO1 | ENST00000521202.2 | c.206A>G | p.Glu69Gly | missense_variant | 1/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.661 AC: 100430AN: 151998Hom.: 33459 Cov.: 33
GnomAD3 exomes AF: 0.659 AC: 156451AN: 237530Hom.: 52043 AF XY: 0.652 AC XY: 83577AN XY: 128256
GnomAD4 exome AF: 0.643 AC: 928129AN: 1443732Hom.: 299697 Cov.: 37 AF XY: 0.641 AC XY: 459259AN XY: 716700
GnomAD4 genome ? AF: 0.661 AC: 100511AN: 152116Hom.: 33490 Cov.: 33 AF XY: 0.660 AC XY: 49077AN XY: 74346
ClinVar
Submissions by phenotype
EXO1-related condition Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 17, 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