chr10-114045197-C-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_000684.3(ADRB1):c.1065C>A(p.Pro355=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00291 in 1,598,152 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0016 ( 1 hom., cov: 32)
Exomes 𝑓: 0.0030 ( 8 hom. )
Consequence
ADRB1
NM_000684.3 synonymous
NM_000684.3 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.246
Genes affected
ADRB1 (HGNC:285): (adrenoceptor beta 1) The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -9 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.43).
BP6
?
Variant 10-114045197-C-A is Benign according to our data. Variant chr10-114045197-C-A is described in ClinVar as [Benign]. Clinvar id is 789895.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
?
Synonymous conserved (PhyloP=0.246 with no splicing effect.
BS2
?
High AC in GnomAd at 248 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADRB1 | NM_000684.3 | c.1065C>A | p.Pro355= | synonymous_variant | 1/1 | ENST00000369295.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADRB1 | ENST00000369295.4 | c.1065C>A | p.Pro355= | synonymous_variant | 1/1 | NM_000684.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00164 AC: 248AN: 150768Hom.: 1 Cov.: 32
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GnomAD3 exomes AF: 0.00198 AC: 471AN: 237762Hom.: 1 AF XY: 0.00213 AC XY: 278AN XY: 130236
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GnomAD4 exome AF: 0.00304 AC: 4400AN: 1447276Hom.: 8 Cov.: 31 AF XY: 0.00299 AC XY: 2152AN XY: 720062
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GnomAD4 genome ? AF: 0.00164 AC: 248AN: 150876Hom.: 1 Cov.: 32 AF XY: 0.00142 AC XY: 105AN XY: 73696
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 08, 2018 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at