rs1005165

Variant names:

• chr19-45405792-C-G
• rs1005165
• ENST00000418234.6:c.-22+500G>C

Your query was ambiguous. Multiple possible variants found:

• chr19-45405792-C-G
• chr19-45405792-C-T

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The ENST00000418234.6(PPP1R13L):​c.-22+500G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 32)
• Consequence: PPP1R13L ENST00000418234.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.32
• Publications: 25 publications found

Genes affected

PPP1R13L (HGNC:18838): (protein phosphatase 1 regulatory subunit 13 like) IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]

PPP1R13L Gene-Disease associations (from GenCC):

• arrhythmogenic cardiomyopathy with variable ectodermal abnormalities

  Inheritance: AR Classification: DEFINITIVE Submitted by: Ambry Genetics
• dilated cardiomyopathy

  Inheritance: AR Classification: DEFINITIVE Submitted by: G2P

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.42).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PPP1R13L	NM_001142502.2	c.-22+500G>C		intron_variant	Intron 1 of 12		NP_001135974.1
PPP1R13L	XM_017026177.2	c.-105+500G>C		intron_variant	Intron 1 of 13		XP_016881666.1
PPP1R13L	XM_017026178.2	c.-148+500G>C		intron_variant	Intron 1 of 13		XP_016881667.1
PPP1R13L	XM_017026179.2	c.-22+500G>C		intron_variant	Intron 1 of 8		XP_016881668.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PPP1R13L	ENST00000418234.6	c.-22+500G>C		intron_variant	Intron 1 of 12	1		ENSP00000403902.1
PPP1R13L	ENST00000593226.5	c.-105+500G>C		intron_variant	Intron 1 of 4	3		ENSP00000466730.1
PPP1R13L	ENST00000585905.1	n.18+500G>C		intron_variant	Intron 1 of 6	2

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.42
CADD	Benign	18
DANN	Benign	0.84
PhyloP100		1.3

Splicing

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

Other links and lift over

dbSNP: rs1005165; hg19: chr19-45909050;