rs35070995
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The ENST00000360937.9(AOC1):āc.1975A>Cā(p.Asn659His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00118 in 1,613,882 control chromosomes in the GnomAD database, including 24 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000360937.9 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 |
---|---|---|---|---|---|---|---|---|
AOC1 | NM_001091.4 | c.1975A>C | p.Asn659His | missense_variant | 4/5 | ENST00000360937.9 | NP_001082.2 | |
LOC105375567 | XR_928171.3 | n.122+16390T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AOC1 | ENST00000360937.9 | c.1975A>C | p.Asn659His | missense_variant | 4/5 | 1 | NM_001091.4 | ENSP00000354193 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00634 AC: 963AN: 152000Hom.: 11 Cov.: 31
GnomAD3 exomes AF: 0.00158 AC: 394AN: 249488Hom.: 5 AF XY: 0.00124 AC XY: 168AN XY: 135360
GnomAD4 exome AF: 0.000642 AC: 939AN: 1461764Hom.: 13 Cov.: 39 AF XY: 0.000562 AC XY: 409AN XY: 727192
GnomAD4 genome AF: 0.00637 AC: 969AN: 152118Hom.: 11 Cov.: 31 AF XY: 0.00610 AC XY: 454AN XY: 74370
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jun 26, 2018 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at