rs7157599
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_206918.3(DEGS2):c.23G>A(p.Ser8Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.72 in 1,499,636 control chromosomes in the GnomAD database, including 390,165 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_206918.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DEGS2 | NM_206918.3 | c.23G>A | p.Ser8Asn | missense_variant | 1/3 | ENST00000305631.7 | |
DEGS2 | XM_006720043.4 | c.-27+7040G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DEGS2 | ENST00000305631.7 | c.23G>A | p.Ser8Asn | missense_variant | 1/3 | 1 | NM_206918.3 | P1 | |
DEGS2 | ENST00000553834.1 | c.23G>A | p.Ser8Asn | missense_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.756 AC: 114786AN: 151862Hom.: 43712 Cov.: 33
GnomAD3 exomes AF: 0.732 AC: 75145AN: 102614Hom.: 27676 AF XY: 0.727 AC XY: 41001AN XY: 56394
GnomAD4 exome AF: 0.716 AC: 964931AN: 1347656Hom.: 346401 Cov.: 47 AF XY: 0.716 AC XY: 476044AN XY: 664538
GnomAD4 genome AF: 0.756 AC: 114895AN: 151980Hom.: 43764 Cov.: 33 AF XY: 0.758 AC XY: 56288AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at