rs2275060
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014431.3(PALD1):c.422C>T(p.Ser141Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.192 in 1,577,246 control chromosomes in the GnomAD database, including 31,620 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_014431.3 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 |
---|---|---|---|---|---|---|---|
PALD1 | NM_014431.3 | c.422C>T | p.Ser141Leu | missense_variant | 4/20 | ENST00000263563.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PALD1 | ENST00000263563.7 | c.422C>T | p.Ser141Leu | missense_variant | 4/20 | 1 | NM_014431.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.158 AC: 24036AN: 152106Hom.: 2552 Cov.: 32
GnomAD3 exomes AF: 0.183 AC: 39525AN: 215880Hom.: 4294 AF XY: 0.179 AC XY: 20973AN XY: 117178
GnomAD4 exome AF: 0.195 AC: 278092AN: 1425022Hom.: 29072 Cov.: 33 AF XY: 0.192 AC XY: 135471AN XY: 706954
GnomAD4 genome AF: 0.158 AC: 24031AN: 152224Hom.: 2548 Cov.: 32 AF XY: 0.161 AC XY: 11986AN XY: 74414
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at