rs4979032

Positions:

• chr9-111664695-G-A

Variant summary

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

The NM_001017998.4(GNG10):​c.82-2120G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.381 in 151,840 control chromosomes in the GnomAD database, including 11,916 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 0.38 (11916 hom., cov: 30)
• Consequence: GNG10 NM_001017998.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.466

Genes affected

GNG10 (HGNC:4402): (G protein subunit gamma 10) Predicted to enable G-protein beta-subunit binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex. [provided by Alliance of Genome Resources, Apr 2022]

DNAJC25-GNG10 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.53 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
GNG10	NM_001017998.4	c.82-2120G>A		intron_variant		ENST00000374293.5
DNAJC25-GNG10	NM_004125.4	c.337-2120G>A		intron_variant
GNG10	NM_001198664.2	c.82-2120G>A		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
GNG10	ENST00000374293.5	c.82-2120G>A		intron_variant		1	NM_001017998.4	P1

Frequencies

GnomAD3 genomes AF: 0.380 AC: 57695 AN: 151722 Hom.: 11884 Cov.: 30

Gnomad AFR AF: 0.536

Gnomad AMI AF: 0.208

Gnomad AMR AF: 0.448

Gnomad ASJ AF: 0.374

Gnomad EAS AF: 0.437

Gnomad SAS AF: 0.309

Gnomad FIN AF: 0.317

Gnomad MID AF: 0.326

Gnomad NFE AF: 0.285

Gnomad OTH AF: 0.365

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

GnomAD4 genome AF: 0.381 AC: 57780 AN: 151840 Hom.: 11916 Cov.: 30 AF XY: 0.384 AC XY: 28487 AN XY: 74224

Gnomad4 AFR AF: 0.536

Gnomad4 AMR AF: 0.449

Gnomad4 ASJ AF: 0.374

Gnomad4 EAS AF: 0.437

Gnomad4 SAS AF: 0.308

Gnomad4 FIN AF: 0.317

Gnomad4 NFE AF: 0.285

Gnomad4 OTH AF: 0.361

Alfa AF: 0.312 Hom.: 3638

Bravo AF: 0.400

Asia WGS AF: 0.372 AC: 1291 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.5
DANN	Benign	0.72

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: rs4979032; hg19: chr9-114426975; COSMIC: COSV65349757;