chr7-6409860-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_139179.4(DAGLB):c.1996G>A(p.Val666Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,614,002 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_139179.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DAGLB | NM_139179.4 | c.1996G>A | p.Val666Ile | missense_variant | 15/15 | ENST00000297056.11 | NP_631918.3 | |
DAGLB | NM_001142936.2 | c.1609G>A | p.Val537Ile | missense_variant | 13/13 | NP_001136408.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DAGLB | ENST00000297056.11 | c.1996G>A | p.Val666Ile | missense_variant | 15/15 | 1 | NM_139179.4 | ENSP00000297056.6 |
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 250862Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135730
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461670Hom.: 0 Cov.: 30 AF XY: 0.0000124 AC XY: 9AN XY: 727140
GnomAD4 genome AF: 0.000151 AC: 23AN: 152332Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 08, 2024 | The c.1996G>A (p.V666I) alteration is located in exon 15 (coding exon 15) of the DAGLB gene. This alteration results from a G to A substitution at nucleotide position 1996, causing the valine (V) at amino acid position 666 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at