10-95263886-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020992.4(PDLIM1):c.511G>A(p.Gly171Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,613,330 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020992.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PDLIM1 | NM_020992.4 | c.511G>A | p.Gly171Arg | missense_variant | 4/7 | ENST00000329399.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDLIM1 | ENST00000329399.7 | c.511G>A | p.Gly171Arg | missense_variant | 4/7 | 1 | NM_020992.4 | P1 | |
PDLIM1 | ENST00000477757.5 | n.456G>A | non_coding_transcript_exon_variant | 3/6 | 2 | ||||
PDLIM1 | ENST00000493949.1 | n.785G>A | non_coding_transcript_exon_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000360 AC: 9AN: 250122Hom.: 0 AF XY: 0.0000444 AC XY: 6AN XY: 135164
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461058Hom.: 0 Cov.: 34 AF XY: 0.0000151 AC XY: 11AN XY: 726812
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152272Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at