Genetic Variant NM_001379692.1:c.-110_-102dupGGTGGGGAC (chr14-96204870-G-GGGTGGGGAC) – ACMG Classification: Uncertain_significance (0 pts)

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

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.00

Publications

6 publications found

Variant links:

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]

BDKRB2 links:

ENSG00000258691 (HGNC:):

ENSG00000258691 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BDKRB2	NM_001379692.1 link	c.-110_-102dupGGTGGGGAC		5_prime_UTR_variant	Exon 1 of 3	ENST00000554311.2	NP_001366621.1
BDKRB2	NM_000623.4 link	c.-105_-97dupGGTGGGGAC		5_prime_UTR_variant	Exon 1 of 3		NP_000614.1	P30411-1

Ensembl

Gene	Transcript	HGVSc	Effect	Exon rank	TSL	MANE	Protein	UniProt
BDKRB2	ENST00000554311.2 link	c.-110_-102dupGGTGGGGAC	5_prime_UTR_variant	Exon 1 of 3	1	NM_001379692.1	ENSP00000450482.1	P30411-1
BDKRB2	ENST00000542454.2 link	c.-2878_-2870dupGGTGGGGAC	5_prime_UTR_variant	Exon 1 of 3	1		ENSP00000439459.2	P30411-2
ENSG00000258691	ENST00000553811.1 link	c.-105_-97dupGGTGGGGAC	5_prime_UTR_variant	Exon 1 of 4	2		ENSP00000450984.1	G3V318
BDKRB2	ENST00000539359.1 link	c.-352_-344dupGGTGGGGAC	5_prime_UTR_variant	Exon 1 of 4	2		ENSP00000438376.1	P30411-2

Frequencies

GnomAD3 genomes

AF:

0.0000925

AC:

AN:

151392

Hom.:

Cov.:

show subpopulations

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:

AN:

194170

Hom.:

Cov.:

AF XY:

0.00000886

AC XY:

AN XY:

112808

show subpopulations

African (AFR)

AF:

0.00

AC:

AN:

3490

American (AMR)

AF:

0.00

AC:

AN:

11570

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

5608

East Asian (EAS)

AF:

0.00

AC:

AN:

2610

South Asian (SAS)

AF:

0.00

AC:

AN:

42732

European-Finnish (FIN)

AF:

0.00

AC:

AN:

9936

Middle Eastern (MID)

AF:

0.00

AC:

AN:

2060

European-Non Finnish (NFE)

AF:

0.00

AC:

AN:

107112

Other (OTH)

AF:

0.000110

AC:

AN:

9052

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.825

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

GnomAD4 genome

AF:

0.0000924

AC:

AN:

151510

Hom.:

Cov.:

AF XY:

0.0000811

AC XY:

AN XY:

74022

show subpopulations

African (AFR)

AF:

0.000169

AC:

AN:

41382

American (AMR)

AF:

0.00

AC:

AN:

15236

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

3462

East Asian (EAS)

AF:

0.00

AC:

AN:

5044

South Asian (SAS)

AF:

0.00

AC:

AN:

4796

European-Finnish (FIN)

AF:

0.00

AC:

AN:

10508

Middle Eastern (MID)

AF:

0.00

AC:

AN:

292

European-Non Finnish (NFE)

AF:

0.000103

AC:

AN:

67770

Other (OTH)

AF:

0.00

AC:

AN:

2114

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.475

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Variant carriers

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.00

Hom.:

1629

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

PhyloP100

0.0

Splicing

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

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over