6-150184569-T-G

Variant names:

• chr6-150184569-T-G
• rs2144400
• NM_030949.3:c.307-30175T>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_030949.3(PPP1R14C):​c.307-30175T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.883 in 151,630 control chromosomes in the GnomAD database, including 59,417 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 0.88 (59417 hom., cov: 28)
• Consequence: PPP1R14C NM_030949.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.92
• Publications: 5 publications found

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

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.972 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_030949.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PPP1R14C	NM_030949.3	MANE Select	c.307-30175T>G		intron	N/A	NP_112211.1	Q8TAE6

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PPP1R14C	ENST00000361131.5	TSL:1 MANE Select	c.307-30175T>G		intron	N/A	ENSP00000355260.4	Q8TAE6
	PPP1R14C	ENST00000952229.1		c.307-30175T>G		intron	N/A	ENSP00000622288.1
	PPP1R14C	ENST00000893449.1		c.306+41071T>G		intron	N/A	ENSP00000563508.1

Frequencies

GnomAD3 genomes AF: 0.882 AC: 133700 AN: 151512 Hom.: 59355 Cov.: 28

Gnomad AFR AF: 0.964

Gnomad AMI AF: 0.905

Gnomad AMR AF: 0.886

Gnomad ASJ AF: 0.834

Gnomad EAS AF: 0.995

Gnomad SAS AF: 0.955

Gnomad FIN AF: 0.881

Gnomad MID AF: 0.842

Gnomad NFE AF: 0.822

Gnomad OTH AF: 0.867

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

GnomAD4 genome AF: 0.883 AC: 133821 AN: 151630 Hom.: 59417 Cov.: 28 AF XY: 0.887 AC XY: 65720 AN XY: 74052

African (AFR) AF: 0.964 AC: 39833 AN: 41306

American (AMR) AF: 0.887 AC: 13492 AN: 15216

Ashkenazi Jewish (ASJ) AF: 0.834 AC: 2895 AN: 3472

East Asian (EAS) AF: 0.995 AC: 5079 AN: 5104

South Asian (SAS) AF: 0.954 AC: 4562 AN: 4780

European-Finnish (FIN) AF: 0.881 AC: 9250 AN: 10504

Middle Eastern (MID) AF: 0.847 AC: 249 AN: 294

European-Non Finnish (NFE) AF: 0.821 AC: 55813 AN: 67942

Other (OTH) AF: 0.868 AC: 1823 AN: 2100

Alfa AF: 0.865 Hom.: 10241

Bravo AF: 0.887

Asia WGS AF: 0.971 AC: 3378 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.090
DANN	Benign	0.55
PhyloP100		-1.9
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs2144400; hg19: chr6-150505705; COSMIC: COSV63173453;