NM_019121.2:c.507C>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019121.2(PPP1R37):c.507C>G(p.Ile169Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000199 in 1,536,092 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019121.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152212Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000881 AC: 12AN: 136190Hom.: 0 AF XY: 0.000122 AC XY: 9AN XY: 74050
GnomAD4 exome AF: 0.000209 AC: 289AN: 1383762Hom.: 0 Cov.: 31 AF XY: 0.000182 AC XY: 124AN XY: 682840
GnomAD4 genome AF: 0.000105 AC: 16AN: 152330Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.507C>G (p.I169M) alteration is located in exon 5 (coding exon 5) of the PPP1R37 gene. This alteration results from a C to G substitution at nucleotide position 507, causing the isoleucine (I) at amino acid position 169 to be replaced by a methionine (M). 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