4-2904980-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001354761.2(ADD1):c.1378G>T(p.Gly460Trp) variant causes a missense change. The variant allele was found at a frequency of 0.198 in 1,613,978 control chromosomes in the GnomAD database, including 35,225 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (★★★).
Frequency
Consequence
NM_001354761.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADD1 | NM_001354761.2 | c.1378G>T | p.Gly460Trp | missense_variant | Exon 10 of 16 | ENST00000683351.1 | NP_001341690.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADD1 | ENST00000683351.1 | c.1378G>T | p.Gly460Trp | missense_variant | Exon 10 of 16 | NM_001354761.2 | ENSP00000508142.1 |
Frequencies
GnomAD3 genomes AF: 0.169 AC: 25648AN: 152000Hom.: 2654 Cov.: 32
GnomAD3 exomes AF: 0.203 AC: 51062AN: 251244Hom.: 6182 AF XY: 0.201 AC XY: 27258AN XY: 135828
GnomAD4 exome AF: 0.201 AC: 294479AN: 1461860Hom.: 32571 Cov.: 33 AF XY: 0.200 AC XY: 145139AN XY: 727232
GnomAD4 genome AF: 0.169 AC: 25663AN: 152118Hom.: 2654 Cov.: 32 AF XY: 0.168 AC XY: 12518AN XY: 74344
ClinVar
Submissions by phenotype
hydrochlorothiazide response - Efficacy Other:1
PharmGKB Level of Evidence 2B: Variants in Level 2B clinical annotations are not in PharmGKB’s Tier 1 VIPs. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2B clinical annotations must be supported by at least two independent publications. Drug-variant association: Efficacy
Hypertension, salt-sensitive essential, susceptibility to Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at