NM_000710.4(BDKRB1):c.570C>G (p.Ile190Met) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 21, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004346629.1

Allele description [Variation Report for NM_000710.4(BDKRB1):c.570C>G (p.Ile190Met)]

NM_000710.4(BDKRB1):c.570C>G (p.Ile190Met)

Gene:

BDKRB1:bradykinin receptor B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.2

Genomic location:

Preferred name:

NM_000710.4(BDKRB1):c.570C>G (p.Ile190Met)

HGVS:

NC_000014.9:g.96264252C>G
NM_000710.4:c.570C>GMANE SELECT
NM_001386007.1:c.570C>G
NP_000701.2:p.Ile190Met
NP_001372936.1:p.Ile190Met
NC_000014.8:g.96730589C>G
NM_000710.3:c.570C>G

Protein change:

I190M

Molecular consequence:

NM_000710.4:c.570C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386007.1:c.570C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Arabidopsis thaliana cysteine-rich RLK (RECEPTOR-like protein kinase) 5 (CRK5), ...
Arabidopsis thaliana cysteine-rich RLK (RECEPTOR-like protein kinase) 5 (CRK5), mRNA
gi|1063724353|ref|NM_118442.4|

Nucleotide
Caenorhabditis elegans FAM192A/Fyv6 N-terminal domain-containing protein (C25A1....
Caenorhabditis elegans FAM192A/Fyv6 N-terminal domain-containing protein (C25A1.1), mRNA
gi|1972232515|ref|NM_060274.6|

Nucleotide
Mus musculus keratin associated protein 13-22 (Krtap13-22), mRNA
Mus musculus keratin associated protein 13-22 (Krtap13-22), mRNA
gi|254675218|ref|NM_027155.1|

Nucleotide
Nematode Specific Peptide family, group D [Caenorhabditis elegans]
Nematode Specific Peptide family, group D [Caenorhabditis elegans]
gi|17509817|ref|NP_490996.1|

Protein
F-box domain-containing protein [Caenorhabditis elegans]
F-box domain-containing protein [Caenorhabditis elegans]
gi|17531925|ref|NP_494488.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004069407	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004069407

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 21, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004069407.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.570C>G (p.I190M) alteration is located in exon 3 (coding exon 1) of the BDKRB1 gene. This alteration results from a C to G substitution at nucleotide position 570, causing the isoleucine (I) at amino acid position 190 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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