11-125676421-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001612.6(ACRV1):c.611G>A(p.Arg204His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000496 in 1,614,068 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001612.6 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 |
---|---|---|---|---|---|---|---|
ACRV1 | NM_001612.6 | c.611G>A | p.Arg204His | missense_variant | 3/4 | ENST00000533904.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACRV1 | ENST00000533904.6 | c.611G>A | p.Arg204His | missense_variant | 3/4 | 1 | NM_001612.6 | A2 | |
ACRV1 | ENST00000315608.7 | c.554G>A | p.Arg185His | missense_variant | 3/4 | 1 | P2 | ||
ACRV1 | ENST00000530048.5 | c.446G>A | p.Arg149His | missense_variant | 4/5 | 3 | A2 | ||
ACRV1 | ENST00000527795.1 | c.401G>A | p.Arg134His | missense_variant | 4/5 | 2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152108Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251450Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135902
GnomAD4 exome AF: 0.0000520 AC: 76AN: 1461842Hom.: 0 Cov.: 30 AF XY: 0.0000440 AC XY: 32AN XY: 727224
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74432
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 06, 2023 | The c.611G>A (p.R204H) alteration is located in exon 3 (coding exon 3) of the ACRV1 gene. This alteration results from a G to A substitution at nucleotide position 611, causing the arginine (R) at amino acid position 204 to be replaced by a histidine (H). 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