chr5-177489433-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005451.5(PDLIM7):c.829G>A(p.Gly277Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000174 in 1,601,166 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005451.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PDLIM7 | NM_005451.5 | c.829G>A | p.Gly277Ser | missense_variant | 9/13 | ENST00000355841.7 | |
PDLIM7 | NM_203352.3 | c.727G>A | p.Gly243Ser | missense_variant | 9/13 | ||
PDLIM7 | NR_103804.2 | n.1116G>A | non_coding_transcript_exon_variant | 9/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDLIM7 | ENST00000355841.7 | c.829G>A | p.Gly277Ser | missense_variant | 9/13 | 1 | NM_005451.5 | P3 |
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152200Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000128 AC: 29AN: 226464Hom.: 0 AF XY: 0.000114 AC XY: 14AN XY: 122668
GnomAD4 exome AF: 0.000177 AC: 256AN: 1448848Hom.: 0 Cov.: 31 AF XY: 0.000172 AC XY: 124AN XY: 719460
GnomAD4 genome AF: 0.000144 AC: 22AN: 152318Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74476
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at