17-47287441-G-A

Variant names:

• chr17-47287441-G-A
• rs951351
• NM_000212.3:c.939+210G>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.939+210G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.039 in 152,256 control chromosomes in the GnomAD database, including 191 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 0.039 (191 hom., cov: 32)
• Consequence: ITGB3 NM_000212.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0610
• Publications: 7 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=-0.75).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.0926 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.939+210G>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.939+210G>A		intron	N/A	ENSP00000452786.2
	ITGB3	ENST00000571680.1	TSL:1	c.939+210G>A		intron	N/A	ENSP00000461626.1
	ENSG00000259753	ENST00000560629.1	TSL:2	n.903+210G>A		intron	N/A	ENSP00000456711.2

Frequencies

GnomAD3 genomes AF: 0.0390 AC: 5938 AN: 152136 Hom.: 191 Cov.: 32

Gnomad AFR AF: 0.00997

Gnomad AMI AF: 0.0526

Gnomad AMR AF: 0.0960

Gnomad ASJ AF: 0.0757

Gnomad EAS AF: 0.0997

Gnomad SAS AF: 0.0512

Gnomad FIN AF: 0.0133

Gnomad MID AF: 0.0285

Gnomad NFE AF: 0.0402

Gnomad OTH AF: 0.0459

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

GnomAD4 genome AF: 0.0390 AC: 5941 AN: 152256 Hom.: 191 Cov.: 32 AF XY: 0.0401 AC XY: 2988 AN XY: 74452

African (AFR) AF: 0.00994 AC: 413 AN: 41556

American (AMR) AF: 0.0961 AC: 1470 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.0757 AC: 263 AN: 3472

East Asian (EAS) AF: 0.0997 AC: 516 AN: 5176

South Asian (SAS) AF: 0.0519 AC: 249 AN: 4798

European-Finnish (FIN) AF: 0.0133 AC: 141 AN: 10610

Middle Eastern (MID) AF: 0.0306 AC: 9 AN: 294

European-Non Finnish (NFE) AF: 0.0402 AC: 2736 AN: 68028

Other (OTH) AF: 0.0454 AC: 96 AN: 2114

Alfa AF: 0.0410 Hom.: 99

Bravo AF: 0.0424

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	4.3
DANN	Benign	0.75
PhyloP100		0.061
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: rs951351; hg19: chr17-45364807;