chr8-26864510-A-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_000680.4(ADRA1A):āc.460T>Gā(p.Ser154Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00888 in 1,613,934 control chromosomes in the GnomAD database, including 111 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S154F) has been classified as Uncertain significance.
Frequency
Consequence
NM_000680.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADRA1A | NM_000680.4 | c.460T>G | p.Ser154Ala | missense_variant | 2/3 | ENST00000380573.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADRA1A | ENST00000380573.4 | c.460T>G | p.Ser154Ala | missense_variant | 2/3 | 2 | NM_000680.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00709 AC: 1078AN: 152070Hom.: 12 Cov.: 32
GnomAD3 exomes AF: 0.00695 AC: 1745AN: 251160Hom.: 15 AF XY: 0.00676 AC XY: 918AN XY: 135772
GnomAD4 exome AF: 0.00907 AC: 13260AN: 1461744Hom.: 99 Cov.: 31 AF XY: 0.00894 AC XY: 6498AN XY: 727178
GnomAD4 genome AF: 0.00708 AC: 1078AN: 152190Hom.: 12 Cov.: 32 AF XY: 0.00695 AC XY: 517AN XY: 74406
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 06, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at