rs3759601
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_018036.7(ATG2B):āc.4147C>Gā(p.Gln1383Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.395 in 1,610,334 control chromosomes in the GnomAD database, including 131,674 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 (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_018036.7 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 |
---|---|---|---|---|---|---|---|
ATG2B | NM_018036.7 | c.4147C>G | p.Gln1383Glu | missense_variant | 28/42 | ENST00000359933.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATG2B | ENST00000359933.6 | c.4147C>G | p.Gln1383Glu | missense_variant | 28/42 | 5 | NM_018036.7 | P1 | |
ATG2B | ENST00000261834.9 | n.133C>G | non_coding_transcript_exon_variant | 1/14 | 2 |
Frequencies
GnomAD3 genomes AF: 0.325 AC: 49310AN: 151870Hom.: 9153 Cov.: 32
GnomAD3 exomes AF: 0.357 AC: 88892AN: 248692Hom.: 17285 AF XY: 0.355 AC XY: 47751AN XY: 134474
GnomAD4 exome AF: 0.402 AC: 586515AN: 1458346Hom.: 122522 Cov.: 35 AF XY: 0.398 AC XY: 288430AN XY: 725468
GnomAD4 genome AF: 0.324 AC: 49319AN: 151988Hom.: 9152 Cov.: 32 AF XY: 0.320 AC XY: 23766AN XY: 74276
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 05, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at