chr17-47294709-G-A

Variant names:

• chr17-47294709-G-A
• rs3785872
• NM_000212.3:c.1690+2141G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_000212.3(ITGB3):​c.1690+2141G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0833 in 152,272 control chromosomes in the GnomAD database, including 730 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 0.083 (730 hom., cov: 32)
• Consequence: ITGB3 NM_000212.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.213
• Publications: 2 publications found

Genes affected

ITGB3 (HGNC:6156): (integrin subunit beta 3) The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]

ENSG00000259753 (HGNC:):

EFCAB13-DT (HGNC:55338): (EFCAB13 divergent transcript)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.215 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_000212.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ITGB3	NM_000212.3	MANE Select	c.1690+2141G>A		intron	N/A	NP_000203.2

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ITGB3	ENST00000559488.7	TSL:1 MANE Select	c.1690+2141G>A		intron	N/A	ENSP00000452786.2
	ENSG00000259753	ENST00000560629.1	TSL:2	n.1654+2141G>A		intron	N/A	ENSP00000456711.2
	ITGB3	ENST00000696963.1		c.1690+2141G>A		intron	N/A	ENSP00000513002.1

Frequencies

GnomAD3 genomes AF: 0.0834 AC: 12697 AN: 152154 Hom.: 731 Cov.: 32

Gnomad AFR AF: 0.0271

Gnomad AMI AF: 0.0647

Gnomad AMR AF: 0.0650

Gnomad ASJ AF: 0.0625

Gnomad EAS AF: 0.225

Gnomad SAS AF: 0.144

Gnomad FIN AF: 0.136

Gnomad MID AF: 0.104

Gnomad NFE AF: 0.0998

Gnomad OTH AF: 0.0875

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

GnomAD4 genome AF: 0.0833 AC: 12689 AN: 152272 Hom.: 730 Cov.: 32 AF XY: 0.0852 AC XY: 6346 AN XY: 74448

African (AFR) AF: 0.0271 AC: 1126 AN: 41560

American (AMR) AF: 0.0650 AC: 994 AN: 15304

Ashkenazi Jewish (ASJ) AF: 0.0625 AC: 217 AN: 3472

East Asian (EAS) AF: 0.226 AC: 1167 AN: 5174

South Asian (SAS) AF: 0.143 AC: 689 AN: 4828

European-Finnish (FIN) AF: 0.136 AC: 1438 AN: 10602

Middle Eastern (MID) AF: 0.0986 AC: 29 AN: 294

European-Non Finnish (NFE) AF: 0.0998 AC: 6787 AN: 68012

Other (OTH) AF: 0.0866 AC: 183 AN: 2114

Alfa AF: 0.0897 Hom.: 82

Bravo AF: 0.0751

Asia WGS AF: 0.200 AC: 694 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	4.4
DANN	Benign	0.66
PhyloP100		0.21
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs3785872; hg19: chr17-45372075;