chr10-114044941-C-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_000684.3(ADRB1):c.809C>A(p.Ala270Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000392 in 1,530,604 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A270T) has been classified as Benign.
Frequency
Consequence
NM_000684.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADRB1 | NM_000684.3 | c.809C>A | p.Ala270Glu | missense_variant | 1/1 | ENST00000369295.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADRB1 | ENST00000369295.4 | c.809C>A | p.Ala270Glu | missense_variant | 1/1 | NM_000684.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000134 AC: 2AN: 149268Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000203 AC: 3AN: 147756Hom.: 0 AF XY: 0.0000246 AC XY: 2AN XY: 81144
GnomAD4 exome AF: 0.00000290 AC: 4AN: 1381336Hom.: 0 Cov.: 31 AF XY: 0.00000441 AC XY: 3AN XY: 680032
GnomAD4 genome AF: 0.0000134 AC: 2AN: 149268Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 72800
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 31, 2023 | The c.809C>A (p.A270E) alteration is located in exon 1 (coding exon 1) of the ADRB1 gene. This alteration results from a C to A substitution at nucleotide position 809, causing the alanine (A) at amino acid position 270 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at