rs1086204

Positions:

• chr6-150243430-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_030949.3(PPP1R14C):​c.424-5316G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0476 in 152,038 control chromosomes in the GnomAD database, including 255 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.048 (255 hom., cov: 32)
• Consequence: PPP1R14C NM_030949.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.49

Genes affected

PPP1R14C (HGNC:14952): (protein phosphatase 1 regulatory inhibitor subunit 14C) The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0673 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PPP1R14C	NM_030949.3	c.424-5316G>A		intron_variant		ENST00000361131.5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PPP1R14C	ENST00000361131.5	c.424-5316G>A		intron_variant		1	NM_030949.3	P1

Frequencies

GnomAD3 genomes AF: 0.0476 AC: 7239 AN: 151922 Hom.: 255 Cov.: 32

Gnomad AFR AF: 0.0109

Gnomad AMI AF: 0.104

Gnomad AMR AF: 0.0395

Gnomad ASJ AF: 0.100

Gnomad EAS AF: 0.000192

Gnomad SAS AF: 0.0260

Gnomad FIN AF: 0.0757

Gnomad MID AF: 0.0759

Gnomad NFE AF: 0.0690

Gnomad OTH AF: 0.0514

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0476 AC: 7237 AN: 152038 Hom.: 255 Cov.: 32 AF XY: 0.0468 AC XY: 3480 AN XY: 74328

Gnomad4 AFR AF: 0.0108

Gnomad4 AMR AF: 0.0395

Gnomad4 ASJ AF: 0.100

Gnomad4 EAS AF: 0.000193

Gnomad4 SAS AF: 0.0262

Gnomad4 FIN AF: 0.0757

Gnomad4 NFE AF: 0.0690

Gnomad4 OTH AF: 0.0509

Alfa AF: 0.0588 Hom.: 41

Bravo AF: 0.0440

Asia WGS AF: 0.0160 AC: 54 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.87
DANN	Benign	0.68

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs1086204; hg19: chr6-150564566;