chr13-113346252-CCG-C

Position:

• chr13-113346252-CCG-C

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP6_Moderate

The XM_047430838.1(LOC124903217):​c.1095_1096del​(p.Gly366ProfsTer138) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Likely benign (★).

• Frequency:
  • Genomes: 𝑓 0.0027 (24 hom., cov: 0)
  • Failed GnomAD Quality Control
• Consequence: LOC124903217 XM_047430838.1 frameshift
• Clinical Significance: Likely benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.423

Genes affected

LOC124903217 (HGNC:):

GRTP1 (HGNC:20310): (growth hormone regulated TBC protein 1) Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Likely_benign. Variant got -2 ACMG points.

• BP6: Variant 13-113346252-CCG-C is Benign according to our data. Variant chr13-113346252-CCG-C is described in ClinVar as [Likely_benign]. Clinvar id is 2643988.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC124903217	XM_047430838.1	c.1095_1096del	p.Gly366ProfsTer138	frameshift_variant	2/2		XP_047286794.1
GRTP1	NM_024719.4	c.466-1295_466-1294del		intron_variant		ENST00000375431.9	NP_078995.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
GRTP1	ENST00000375431.9	c.466-1295_466-1294del		intron_variant		1	NM_024719.4	ENSP00000364580	P1
GRTP1	ENST00000326039.3	c.232-1295_232-1294del		intron_variant		1		ENSP00000321850
GRTP1	ENST00000375430.8	c.466-1295_466-1294del		intron_variant		1		ENSP00000364579
GRTP1	ENST00000620217.4	c.466-1295_466-1294del		intron_variant		2		ENSP00000483734

Frequencies

GnomAD3 genomes AF: 0.00 AC: 220 AN: 81112 Hom.: 24 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.00180

Gnomad AMI AF: 0.00356

Gnomad AMR AF: 0.00262

Gnomad ASJ AF: 0.00176

Gnomad EAS AF: 0.000999

Gnomad SAS AF: 0.00130

Gnomad FIN AF: 0.00195

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00352

Gnomad OTH AF: 0.00286

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00271 AC: 220 AN: 81146 Hom.: 24 Cov.: 0 AF XY: 0.00255 AC XY: 100 AN XY: 39252

Gnomad4 AFR AF: 0.00180

Gnomad4 AMR AF: 0.00261

Gnomad4 ASJ AF: 0.00176

Gnomad4 EAS AF: 0.00100

Gnomad4 SAS AF: 0.00131

Gnomad4 FIN AF: 0.00195

Gnomad4 NFE AF: 0.00352

Gnomad4 OTH AF: 0.00283

Alfa AF: 0.0162 Hom.: 2

ClinVar

Significance: Likely benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Likely benign, criteria provided, single submitter

clinical testing

CeGaT Center for Human Genetics Tuebingen

Jan 01, 2023

GRTP1: BS2 -

Computational scores

Source: dbNSFP v4.3

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: rs1280488963; hg19: chr13-114000567;