4-2876013-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001354761.2(ADD1):c.98C>T(p.Pro33Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,614,022 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001354761.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADD1 | NM_001354761.2 | c.98C>T | p.Pro33Leu | missense_variant | Exon 2 of 16 | ENST00000683351.1 | NP_001341690.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADD1 | ENST00000683351.1 | c.98C>T | p.Pro33Leu | missense_variant | Exon 2 of 16 | NM_001354761.2 | ENSP00000508142.1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152182Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251382Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135860
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461840Hom.: 0 Cov.: 30 AF XY: 0.0000206 AC XY: 15AN XY: 727226
GnomAD4 genome AF: 0.000118 AC: 18AN: 152182Hom.: 1 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.98C>T (p.P33L) alteration is located in exon 2 (coding exon 1) of the ADD1 gene. This alteration results from a C to T substitution at nucleotide position 98, causing the proline (P) at amino acid position 33 to be replaced by a leucine (L). 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