chr15-52122977-C-CA

Position:

• chr15-52122977-C-CA

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_016194.4(GNB5):​c.1177-210_1177-209insT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.253 in 151,908 control chromosomes in the GnomAD database, including 6,549 homozygotes. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.25 (6549 hom., cov: 26)
• Consequence: GNB5 NM_016194.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.519

Genes affected

GNB5 (HGNC:4401): (G protein subunit beta 5) Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 15-52122977-C-CA is Benign according to our data. Variant chr15-52122977-C-CA is described in ClinVar as [Benign]. Clinvar id is 1253120.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.483 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
GNB5	NM_016194.4	c.1177-210_1177-209insT		intron_variant		ENST00000261837.12
GNB5	NM_001379343.1	c.895-210_895-209insT		intron_variant
GNB5	NM_006578.4	c.1051-210_1051-209insT		intron_variant
GNB5	XM_011521162.4	c.1051-210_1051-209insT		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
GNB5	ENST00000261837.12	c.1177-210_1177-209insT		intron_variant		5	NM_016194.4	P3

Frequencies

GnomAD3 genomes AF: 0.252 AC: 38304 AN: 151790 Hom.: 6527 Cov.: 26

Gnomad AFR AF: 0.489

Gnomad AMI AF: 0.209

Gnomad AMR AF: 0.186

Gnomad ASJ AF: 0.156

Gnomad EAS AF: 0.241

Gnomad SAS AF: 0.253

Gnomad FIN AF: 0.158

Gnomad MID AF: 0.215

Gnomad NFE AF: 0.146

Gnomad OTH AF: 0.238

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

GnomAD4 genome AF: 0.253 AC: 38373 AN: 151908 Hom.: 6549 Cov.: 26 AF XY: 0.250 AC XY: 18555 AN XY: 74258

Gnomad4 AFR AF: 0.489

Gnomad4 AMR AF: 0.186

Gnomad4 ASJ AF: 0.156

Gnomad4 EAS AF: 0.242

Gnomad4 SAS AF: 0.251

Gnomad4 FIN AF: 0.158

Gnomad4 NFE AF: 0.146

Gnomad4 OTH AF: 0.240

Alfa AF: 0.208 Hom.: 479

Bravo AF: 0.264

Asia WGS AF: 0.289 AC: 1002 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Sep 04, 2018

- -

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: rs5812581; hg19: chr15-52415174;