rs11726124

Positions:

• chr4-105845339-A-G

Variant summary

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

The NM_001370181.1(GSTCD):​c.1766-102A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0603 in 1,250,050 control chromosomes in the GnomAD database, including 2,539 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 0.055 (258 hom., cov: 32)
  • Exomes 𝑓: 0.061 (2281 hom.)
• Consequence: GSTCD NM_001370181.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.217

Genes affected

GSTCD (HGNC:25806): (glutathione S-transferase C-terminal domain containing) Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

INTS12 (HGNC:25067): (integrator complex subunit 12) INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

GSTCD (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.0651 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
GSTCD	NM_001370181.1	c.1766-102A>G		intron_variant		ENST00000515279.6	NP_001357110.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
GSTCD	ENST00000515279.6	c.1766-102A>G		intron_variant		5	NM_001370181.1	ENSP00000422354.1
GSTCD	ENST00000394728.4	c.1766-102A>G		intron_variant		5		ENSP00000378216.3

Frequencies

GnomAD3 genomes AF: 0.0550 AC: 8373 AN: 152212 Hom.: 259 Cov.: 32

Gnomad AFR AF: 0.0422

Gnomad AMI AF: 0.135

Gnomad AMR AF: 0.0687

Gnomad ASJ AF: 0.0815

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.0248

Gnomad FIN AF: 0.0316

Gnomad MID AF: 0.149

Gnomad NFE AF: 0.0662

Gnomad OTH AF: 0.0770

GnomAD4 exome AF: 0.0610 AC: 66985 AN: 1097720 Hom.: 2281 AF XY: 0.0602 AC XY: 33353 AN XY: 554466

Gnomad4 AFR exome AF: 0.0444

Gnomad4 AMR exome AF: 0.0463

Gnomad4 ASJ exome AF: 0.0811

Gnomad4 EAS exome AF: 0.000318

Gnomad4 SAS exome AF: 0.0349

Gnomad4 FIN exome AF: 0.0383

Gnomad4 NFE exome AF: 0.0681

Gnomad4 OTH exome AF: 0.0612

GnomAD4 genome AF: 0.0550 AC: 8371 AN: 152330 Hom.: 258 Cov.: 32 AF XY: 0.0525 AC XY: 3914 AN XY: 74502

Gnomad4 AFR AF: 0.0422

Gnomad4 AMR AF: 0.0685

Gnomad4 ASJ AF: 0.0815

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.0249

Gnomad4 FIN AF: 0.0316

Gnomad4 NFE AF: 0.0662

Gnomad4 OTH AF: 0.0766

Alfa AF: 0.0540 Hom.: 44

Bravo AF: 0.0577

Asia WGS AF: 0.0160 AC: 57 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	1.2
DANN	Benign	0.67

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: rs11726124; hg19: chr4-106766496;