17-74484010-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007261.4(CD300A):āc.784A>Gā(p.Arg262Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,630 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_007261.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CD300A | NM_007261.4 | c.784A>G | p.Arg262Gly | missense_variant | 7/7 | ENST00000360141.8 | NP_009192.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD300A | ENST00000360141.8 | c.784A>G | p.Arg262Gly | missense_variant | 7/7 | 1 | NM_007261.4 | ENSP00000353259 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152032Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461598Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727106
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152032Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74248
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 02, 2024 | The c.784A>G (p.R262G) alteration is located in exon 7 (coding exon 7) of the CD300A gene. This alteration results from a A to G substitution at nucleotide position 784, causing the arginine (R) at amino acid position 262 to be replaced by a glycine (G). 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