3-138239500-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001363941.2(ARMC8):c.809G>A(p.Arg270Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000169 in 1,598,006 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. R270W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001363941.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARMC8 | NM_001363941.2 | c.809G>A | p.Arg270Gln | missense_variant | 10/22 | ENST00000469044.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARMC8 | ENST00000469044.6 | c.809G>A | p.Arg270Gln | missense_variant | 10/22 | 5 | NM_001363941.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151028Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000329 AC: 8AN: 242912Hom.: 0 AF XY: 0.0000456 AC XY: 6AN XY: 131470
GnomAD4 exome AF: 0.0000173 AC: 25AN: 1446862Hom.: 0 Cov.: 28 AF XY: 0.0000250 AC XY: 18AN XY: 719094
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151144Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73904
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 20, 2023 | The c.767G>A (p.R256Q) alteration is located in exon 11 (coding exon 10) of the ARMC8 gene. This alteration results from a G to A substitution at nucleotide position 767, causing the arginine (R) at amino acid position 256 to be replaced by a glutamine (Q). 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