14-96204870-G-GGGTGGGGAC

Variant names:

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

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_001379692.1(BDKRB2):​c.-110_-102dupGGTGGGGAC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.000092 (0 hom., cov: 0)
  • Exomes 𝑓: 0.0000052 (0 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: Uncertain_significance. The variant received 0 ACMG points.

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_-102dupGGTGGGGAC		5_prime_UTR	Exon 1 of 3	NP_001366621.1	P30411-1
	BDKRB2	NM_000623.4		c.-105_-97dupGGTGGGGAC		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_-102dupGGTGGGGAC		5_prime_UTR	Exon 1 of 3	ENSP00000450482.1	P30411-1
	BDKRB2	ENST00000542454.2	TSL:1	c.-2878_-2870dupGGTGGGGAC		5_prime_UTR	Exon 1 of 3	ENSP00000439459.2	P30411-2
	ENSG00000258691	ENST00000553811.1	TSL:2	c.-105_-97dupGGTGGGGAC		5_prime_UTR	Exon 1 of 4	ENSP00000450984.1	G3V318

Frequencies

GnomAD3 genomes AF: 0.0000925 AC: 14 AN: 151392 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000170

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000103

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.00000515 AC: 1 AN: 194170 Hom.: 0 Cov.: 0 AF XY: 0.00000886 AC XY: 1 AN XY: 112808

African (AFR) AF: 0.00 AC: 0 AN: 3490

American (AMR) AF: 0.00 AC: 0 AN: 11570

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 5608

East Asian (EAS) AF: 0.00 AC: 0 AN: 2610

South Asian (SAS) AF: 0.00 AC: 0 AN: 42732

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 9936

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 2060

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 107112

Other (OTH) AF: 0.000110 AC: 1 AN: 9052

GnomAD4 genome AF: 0.0000924 AC: 14 AN: 151510 Hom.: 0 Cov.: 0 AF XY: 0.0000811 AC XY: 6 AN XY: 74022

African (AFR) AF: 0.000169 AC: 7 AN: 41382

American (AMR) AF: 0.00 AC: 0 AN: 15236

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3462

East Asian (EAS) AF: 0.00 AC: 0 AN: 5044

South Asian (SAS) AF: 0.00 AC: 0 AN: 4796

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10508

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 292

European-Non Finnish (NFE) AF: 0.000103 AC: 7 AN: 67770

Other (OTH) AF: 0.00 AC: 0 AN: 2114

Alfa AF: 0.00 Hom.: 1629

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.0

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs71103505; hg19: chr14-96671207;