rs71103505

Variant names:

• chr14-96204870-GGGTGGGGAC-G
• rs71103505
• NM_001379692.1:c.-110_-102delGGTGGGGAC

Your query was ambiguous. Multiple possible variants found:

• chr14-96204870-GGGTGGGGAC-G
• chr14-96204870-GGGTGGGGAC-GGGTGGGGACGGTGGGGAC

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

The NM_001379692.1(BDKRB2):​c.-110_-102delGGTGGGGAC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.499 in 344,246 control chromosomes in the GnomAD database, including 46,554 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.50 (20120 hom., cov: 0)
  • Exomes 𝑓: 0.50 (26434 hom.)
• Consequence: BDKRB2 NM_001379692.1 5_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00
• Publications: 6 publications found

Genes affected

BDKRB2 (HGNC:1030): (bradykinin receptor B2) This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. Bradykinin is released upon activation by pathophysiologic conditions such as trauma and inflammation, and binds to its kinin receptors, B1 and B2. The B2 receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. [provided by RefSeq, Apr 2020]

ENSG00000258691 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.954 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001379692.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	BDKRB2	NM_001379692.1	MANE Select	c.-110_-102delGGTGGGGAC		5_prime_UTR	Exon 1 of 3	NP_001366621.1	P30411-1
	BDKRB2	NM_000623.4		c.-105_-97delGGTGGGGAC		5_prime_UTR	Exon 1 of 3	NP_000614.1	P30411-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	BDKRB2	ENST00000554311.2	TSL:1 MANE Select	c.-110_-102delGGTGGGGAC		5_prime_UTR	Exon 1 of 3	ENSP00000450482.1	P30411-1
	BDKRB2	ENST00000542454.2	TSL:1	c.-2878_-2870delGGTGGGGAC		5_prime_UTR	Exon 1 of 3	ENSP00000439459.2	P30411-2
	ENSG00000258691	ENST00000553811.1	TSL:2	c.-105_-97delGGTGGGGAC		5_prime_UTR	Exon 1 of 4	ENSP00000450984.1	G3V318

Frequencies

GnomAD3 genomes AF: 0.502 AC: 75994 AN: 151234 Hom.: 20082 Cov.: 0

Gnomad AFR AF: 0.436

Gnomad AMI AF: 0.341

Gnomad AMR AF: 0.617

Gnomad ASJ AF: 0.472

Gnomad EAS AF: 0.977

Gnomad SAS AF: 0.673

Gnomad FIN AF: 0.497

Gnomad MID AF: 0.439

Gnomad NFE AF: 0.475

Gnomad OTH AF: 0.509

GnomAD2 exomes AF: 0.435 AC: 17474 AN: 40160 AF XY: 0.429

Gnomad AFR exome AF: 0.317

Gnomad AMR exome AF: 0.593

Gnomad ASJ exome AF: 0.289

Gnomad EAS exome AF: 0.956

Gnomad FIN exome AF: 0.359

Gnomad NFE exome AF: 0.354

Gnomad OTH exome AF: 0.376

GnomAD4 exome AF: 0.496 AC: 95614 AN: 192894 Hom.: 26434 AF XY: 0.505 AC XY: 56640 AN XY: 112054

African (AFR) AF: 0.343 AC: 1191 AN: 3468

American (AMR) AF: 0.633 AC: 7278 AN: 11492

Ashkenazi Jewish (ASJ) AF: 0.387 AC: 2159 AN: 5582

East Asian (EAS) AF: 0.971 AC: 2526 AN: 2602

South Asian (SAS) AF: 0.617 AC: 26211 AN: 42514

European-Finnish (FIN) AF: 0.490 AC: 4846 AN: 9888

Middle Eastern (MID) AF: 0.444 AC: 907 AN: 2042

European-Non Finnish (NFE) AF: 0.435 AC: 46287 AN: 106324

Other (OTH) AF: 0.469 AC: 4209 AN: 8982

GnomAD4 genome AF: 0.503 AC: 76079 AN: 151352 Hom.: 20120 Cov.: 0 AF XY: 0.512 AC XY: 37838 AN XY: 73936

African (AFR) AF: 0.436 AC: 18024 AN: 41324

American (AMR) AF: 0.617 AC: 9395 AN: 15218

Ashkenazi Jewish (ASJ) AF: 0.472 AC: 1631 AN: 3454

East Asian (EAS) AF: 0.977 AC: 4925 AN: 5042

South Asian (SAS) AF: 0.674 AC: 3224 AN: 4786

European-Finnish (FIN) AF: 0.497 AC: 5216 AN: 10490

Middle Eastern (MID) AF: 0.435 AC: 127 AN: 292

European-Non Finnish (NFE) AF: 0.475 AC: 32141 AN: 67728

Other (OTH) AF: 0.515 AC: 1087 AN: 2112

Alfa AF: 0.356 Hom.: 1629

Bravo AF: 0.511

Asia WGS AF: 0.814 AC: 2826 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.0
Mutation Taster		=300/0	polymorphism (auto)

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs71103505; hg19: chr14-96671207;