6-26375028-A-G

Position:

• chr6-26375028-A-G

Variant summary

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

The NM_007047.5(BTN3A2):​c.*34+230A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0821 in 419,614 control chromosomes in the GnomAD database, including 1,728 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 0.076 (554 hom., cov: 31)
  • Exomes 𝑓: 0.085 (1174 hom.)
• Consequence: BTN3A2 NM_007047.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.395

Genes affected

BTN3A2 (HGNC:1139): (butyrophilin subfamily 3 member A2) This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

BTN3A2 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.108 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
BTN3A2	NM_007047.5	c.*34+230A>G		intron_variant		ENST00000377708.7	NP_008978.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
BTN3A2	ENST00000377708.7	c.*34+230A>G		intron_variant		1	NM_007047.5	ENSP00000366937.2

Frequencies

GnomAD3 genomes AF: 0.0764 AC: 11609 AN: 152006 Hom.: 555 Cov.: 31

Gnomad AFR AF: 0.0341

Gnomad AMI AF: 0.191

Gnomad AMR AF: 0.0401

Gnomad ASJ AF: 0.0297

Gnomad EAS AF: 0.0862

Gnomad SAS AF: 0.0971

Gnomad FIN AF: 0.0709

Gnomad MID AF: 0.0538

Gnomad NFE AF: 0.110

Gnomad OTH AF: 0.0672

GnomAD4 exome AF: 0.0855 AC: 22857 AN: 267488 Hom.: 1174 Cov.: 4 AF XY: 0.0861 AC XY: 11846 AN XY: 137634

Gnomad4 AFR exome AF: 0.0336

Gnomad4 AMR exome AF: 0.0363

Gnomad4 ASJ exome AF: 0.0299

Gnomad4 EAS exome AF: 0.0856

Gnomad4 SAS exome AF: 0.0757

Gnomad4 FIN exome AF: 0.0669

Gnomad4 NFE exome AF: 0.0972

Gnomad4 OTH exome AF: 0.0763

GnomAD4 genome AF: 0.0763 AC: 11600 AN: 152126 Hom.: 554 Cov.: 31 AF XY: 0.0731 AC XY: 5440 AN XY: 74370

Gnomad4 AFR AF: 0.0341

Gnomad4 AMR AF: 0.0399

Gnomad4 ASJ AF: 0.0297

Gnomad4 EAS AF: 0.0864

Gnomad4 SAS AF: 0.0959

Gnomad4 FIN AF: 0.0709

Gnomad4 NFE AF: 0.110

Gnomad4 OTH AF: 0.0675

Alfa AF: 0.0961 Hom.: 96

Bravo AF: 0.0712

Asia WGS AF: 0.0990 AC: 343 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.37
DANN	Benign	0.78

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: rs2073531; hg19: chr6-26375256;