rs735943
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_130398.4(EXO1):c.1061A>G(p.His354Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.567 in 1,609,800 control chromosomes in the GnomAD database, including 261,598 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
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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 |
---|---|---|---|---|---|---|---|
EXO1 | NM_130398.4 | c.1061A>G | p.His354Arg | missense_variant | 11/16 | ENST00000366548.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EXO1 | ENST00000366548.8 | c.1061A>G | p.His354Arg | missense_variant | 11/16 | 1 | NM_130398.4 | P2 | |
EXO1 | ENST00000348581.9 | c.1061A>G | p.His354Arg | missense_variant | 9/14 | 1 | P2 | ||
EXO1 | ENST00000518483.5 | c.1061A>G | p.His354Arg | missense_variant | 9/14 | 1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.593 AC: 90060AN: 151872Hom.: 27013 Cov.: 32
GnomAD3 exomes AF: 0.598 AC: 150353AN: 251406Hom.: 46068 AF XY: 0.589 AC XY: 79978AN XY: 135870
GnomAD4 exome AF: 0.564 AC: 822379AN: 1457810Hom.: 234550 Cov.: 35 AF XY: 0.563 AC XY: 408352AN XY: 725376
GnomAD4 genome ? AF: 0.593 AC: 90153AN: 151990Hom.: 27048 Cov.: 32 AF XY: 0.598 AC XY: 44439AN XY: 74310
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