chr20-4248236-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000678.4(ADRA1D):c.722C>T(p.Pro241Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000281 in 1,604,012 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 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. P241T) has been classified as Uncertain significance.
Frequency
Consequence
NM_000678.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADRA1D | NM_000678.4 | c.722C>T | p.Pro241Leu | missense_variant | 1/2 | ENST00000379453.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADRA1D | ENST00000379453.6 | c.722C>T | p.Pro241Leu | missense_variant | 1/2 | 1 | NM_000678.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152262Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000114 AC: 26AN: 227928Hom.: 0 AF XY: 0.000129 AC XY: 16AN XY: 123678
GnomAD4 exome AF: 0.000293 AC: 426AN: 1451632Hom.: 0 Cov.: 33 AF XY: 0.000291 AC XY: 210AN XY: 721154
GnomAD4 genome AF: 0.000158 AC: 24AN: 152380Hom.: 0 Cov.: 33 AF XY: 0.0000939 AC XY: 7AN XY: 74508
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 30, 2022 | The c.722C>T (p.P241L) alteration is located in exon 1 (coding exon 1) of the ADRA1D gene. This alteration results from a C to T substitution at nucleotide position 722, causing the proline (P) at amino acid position 241 to be replaced by a leucine (L). 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