NM_000684.3(ADRB1):c.1243C>G (p.Leu415Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 15, 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:: RCV004345424.1

Allele description [Variation Report for NM_000684.3(ADRB1):c.1243C>G (p.Leu415Val)]

NM_000684.3(ADRB1):c.1243C>G (p.Leu415Val)

Gene:

ADRB1:adrenoceptor beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.3

Genomic location:

Preferred name:

NM_000684.3(ADRB1):c.1243C>G (p.Leu415Val)

HGVS:

NC_000010.11:g.114045375C>G
NG_012187.1:g.6329C>G
NM_000684.3:c.1243C>GMANE SELECT
NP_000675.1:p.Leu415Val
NC_000010.10:g.115805134C>G
NM_000684.2:c.1243C>G

Protein change:

L415V

Molecular consequence:

NM_000684.3:c.1243C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Fdo1p [Saccharomyces cerevisiae S288C]
Fdo1p [Saccharomyces cerevisiae S288C]
gi|6323793|ref|NP_013864.1|

Protein
MAG: hypothetical protein A2291_04625 [candidate division WOR-1 bacterium RIFOXY...
MAG: hypothetical protein A2291_04625 [candidate division WOR-1 bacterium RIFOXYB2_FULL_42_35]
gi|1082918016|gb|OGC25848.1||gnl|WG C|A2291_04625

Protein
PREDICTED: Zingiber officinale uncharacterized LOC122005795 (LOC122005795), tran...
PREDICTED: Zingiber officinale uncharacterized LOC122005795 (LOC122005795), transcript variant X1, mRNA
gi|2070029181|ref|XM_042561002.1|

Nucleotide
microsomal glutathione s-transferase [Homo sapiens]
microsomal glutathione s-transferase [Homo sapiens]
gi|1621433|gb|AAB17184.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004062988	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004062988

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 15, 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, SCV004062988.2

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

Description

The c.1243C>G (p.L415V) alteration is located in exon 1 (coding exon 1) of the ADRB1 gene. This alteration results from a C to G substitution at nucleotide position 1243, causing the leucine (L) at amino acid position 415 to be replaced by a valine (V). 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 3, 2024

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