4-2894685-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001354761.2(ADD1):c.695C>T(p.Pro232Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000856 in 1,601,376 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADD1 | NM_001354761.2 | c.695C>T | p.Pro232Leu | missense_variant | Exon 6 of 16 | ENST00000683351.1 | NP_001341690.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADD1 | ENST00000683351.1 | c.695C>T | p.Pro232Leu | missense_variant | Exon 6 of 16 | NM_001354761.2 | ENSP00000508142.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152104Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000297 AC: 7AN: 235446Hom.: 0 AF XY: 0.0000236 AC XY: 3AN XY: 127374
GnomAD4 exome AF: 0.0000911 AC: 132AN: 1449272Hom.: 0 Cov.: 32 AF XY: 0.0000860 AC XY: 62AN XY: 720720
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152104Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.695C>T (p.P232L) alteration is located in exon 6 (coding exon 5) of the ADD1 gene. This alteration results from a C to T substitution at nucleotide position 695, causing the proline (P) at amino acid position 232 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