3-37555314-C-G

Position:

• chr3-37555314-C-G

Variant summary

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

The NM_002207.3(ITGA9):​c.1689+12729C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.35 in 152,128 control chromosomes in the GnomAD database, including 9,753 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 0.35 (9753 hom., cov: 33)
• Consequence: ITGA9 NM_002207.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.367

Genes affected

ITGA9 (HGNC:6145): (integrin subunit alpha 9) This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.387 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ITGA9	NM_002207.3	c.1689+12729C>G		intron_variant		ENST00000264741.10	NP_002198.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ITGA9	ENST00000264741.10	c.1689+12729C>G		intron_variant		1	NM_002207.3	ENSP00000264741	P1
ITGA9	ENST00000422441.5	c.1689+12729C>G		intron_variant		1		ENSP00000397258

Frequencies

GnomAD3 genomes AF: 0.350 AC: 53276 AN: 152010 Hom.: 9746 Cov.: 33

Gnomad AFR AF: 0.299

Gnomad AMI AF: 0.343

Gnomad AMR AF: 0.305

Gnomad ASJ AF: 0.434

Gnomad EAS AF: 0.140

Gnomad SAS AF: 0.397

Gnomad FIN AF: 0.402

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.377

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

GnomAD4 genome AF: 0.350 AC: 53297 AN: 152128 Hom.: 9753 Cov.: 33 AF XY: 0.351 AC XY: 26111 AN XY: 74350

Gnomad4 AFR AF: 0.299

Gnomad4 AMR AF: 0.304

Gnomad4 ASJ AF: 0.434

Gnomad4 EAS AF: 0.139

Gnomad4 SAS AF: 0.397

Gnomad4 FIN AF: 0.402

Gnomad4 NFE AF: 0.391

Gnomad4 OTH AF: 0.377

Alfa AF: 0.377 Hom.: 1372

Bravo AF: 0.334

Asia WGS AF: 0.286 AC: 995 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	5.4
DANN	Benign	0.52

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: rs7640747; hg19: chr3-37596805;