rs2336573
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_016579.4(CD320):c.658G>A(p.Gly220Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0503 in 1,613,920 control chromosomes in the GnomAD database, including 4,826 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. G220G) has been classified as Likely benign.
Frequency
Consequence
NM_016579.4 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 | UniProt |
---|---|---|---|---|---|---|---|
CD320 | NM_016579.4 | c.658G>A | p.Gly220Arg | missense_variant | 4/5 | ENST00000301458.10 | |
CD320 | NM_001165895.2 | c.532G>A | p.Gly178Arg | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD320 | ENST00000301458.10 | c.658G>A | p.Gly220Arg | missense_variant | 4/5 | 1 | NM_016579.4 | P1 | |
CD320 | ENST00000596002.5 | c.*946G>A | 3_prime_UTR_variant, NMD_transcript_variant | 4/5 | 1 | ||||
CD320 | ENST00000537716.6 | c.532G>A | p.Gly178Arg | missense_variant | 3/4 | 2 | |||
CD320 | ENST00000599573.1 | c.*258G>A | 3_prime_UTR_variant, NMD_transcript_variant | 4/5 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.114 AC: 17351AN: 151968Hom.: 2022 Cov.: 32
GnomAD3 exomes AF: 0.0585 AC: 14701AN: 251172Hom.: 997 AF XY: 0.0532 AC XY: 7224AN XY: 135818
GnomAD4 exome AF: 0.0437 AC: 63861AN: 1461838Hom.: 2796 Cov.: 34 AF XY: 0.0425 AC XY: 30872AN XY: 727216
GnomAD4 genome ? AF: 0.114 AC: 17381AN: 152082Hom.: 2030 Cov.: 32 AF XY: 0.113 AC XY: 8408AN XY: 74348
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 26, 2013 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Methylmalonic acidemia due to transcobalamin receptor defect Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 28, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at