10-114044146-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000684.3(ADRB1):āc.14T>Cā(p.Val5Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00159 in 1,313,356 control chromosomes in the GnomAD database, including 28 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_000684.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADRB1 | NM_000684.3 | c.14T>C | p.Val5Ala | missense_variant | 1/1 | ENST00000369295.4 | NP_000675.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADRB1 | ENST00000369295.4 | c.14T>C | p.Val5Ala | missense_variant | 1/1 | 6 | NM_000684.3 | ENSP00000358301.2 |
Frequencies
GnomAD3 genomes AF: 0.00784 AC: 1181AN: 150662Hom.: 15 Cov.: 32
GnomAD4 exome AF: 0.000779 AC: 906AN: 1162588Hom.: 13 Cov.: 29 AF XY: 0.000696 AC XY: 391AN XY: 561728
GnomAD4 genome AF: 0.00787 AC: 1186AN: 150768Hom.: 15 Cov.: 32 AF XY: 0.00723 AC XY: 532AN XY: 73630
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Aug 18, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at