rs7864216

Positions:

• chr9-77633661-G-A
• chr9-77633661-G-T

Variant summary

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

The NM_004297.4(GNA14):​c.124+14009C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.128 in 151,716 control chromosomes in the GnomAD database, including 1,461 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 0.13 (1461 hom., cov: 32)
• Consequence: GNA14 NM_004297.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.585

Genes affected

GNA14 (HGNC:4382): (G protein subunit alpha 14) This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.23 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
GNA14	NM_004297.4	c.124+14009C>T		intron_variant		ENST00000341700.7	NP_004288.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
GNA14	ENST00000341700.7	c.124+14009C>T		intron_variant		1	NM_004297.4	ENSP00000365807.4

Frequencies

GnomAD3 genomes AF: 0.128 AC: 19400 AN: 151606 Hom.: 1454 Cov.: 32

Gnomad AFR AF: 0.132

Gnomad AMI AF: 0.101

Gnomad AMR AF: 0.173

Gnomad ASJ AF: 0.172

Gnomad EAS AF: 0.213

Gnomad SAS AF: 0.241

Gnomad FIN AF: 0.152

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.0944

Gnomad OTH AF: 0.145

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

GnomAD4 genome AF: 0.128 AC: 19427 AN: 151716 Hom.: 1461 Cov.: 32 AF XY: 0.132 AC XY: 9813 AN XY: 74200

Gnomad4 AFR AF: 0.132

Gnomad4 AMR AF: 0.174

Gnomad4 ASJ AF: 0.172

Gnomad4 EAS AF: 0.213

Gnomad4 SAS AF: 0.241

Gnomad4 FIN AF: 0.152

Gnomad4 NFE AF: 0.0944

Gnomad4 OTH AF: 0.147

Alfa AF: 0.106 Hom.: 1399

Bravo AF: 0.128

Asia WGS AF: 0.247 AC: 862 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	5.6
DANN	Benign	0.76

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: rs7864216; hg19: chr9-80248577;