chr19-16893238-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_015692.5(CPAMD8):āc.5528A>Gā(p.Gln1843Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.321 in 1,578,602 control chromosomes in the GnomAD database, including 84,483 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/15 in silico tools predict 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
NM_015692.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CPAMD8 | NM_015692.5 | c.5528A>G | p.Gln1843Arg | missense_variant | 42/42 | ENST00000443236.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CPAMD8 | ENST00000443236.7 | c.5528A>G | p.Gln1843Arg | missense_variant | 42/42 | 1 | NM_015692.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.271 AC: 41274AN: 152132Hom.: 6368 Cov.: 33
GnomAD3 exomes AF: 0.297 AC: 56834AN: 191656Hom.: 8832 AF XY: 0.303 AC XY: 31488AN XY: 103922
GnomAD4 exome AF: 0.327 AC: 465708AN: 1426352Hom.: 78106 Cov.: 32 AF XY: 0.325 AC XY: 229943AN XY: 706492
GnomAD4 genome AF: 0.271 AC: 41321AN: 152250Hom.: 6377 Cov.: 33 AF XY: 0.272 AC XY: 20278AN XY: 74432
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 04, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at