chr19-16896552-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_015692.5(CPAMD8):c.5179G>A(p.Asp1727Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00855 in 1,502,024 control chromosomes in the GnomAD database, including 535 homozygotes. In-silico tool predicts a benign outcome for this variant. 9/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
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.5179G>A | p.Asp1727Asn | missense_variant | 40/42 | ENST00000443236.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CPAMD8 | ENST00000443236.7 | c.5179G>A | p.Asp1727Asn | missense_variant | 40/42 | 1 | NM_015692.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0348 AC: 5296AN: 152104Hom.: 259 Cov.: 31
GnomAD3 exomes AF: 0.0137 AC: 1404AN: 102614Hom.: 49 AF XY: 0.0121 AC XY: 689AN XY: 57048
GnomAD4 exome AF: 0.00558 AC: 7533AN: 1349812Hom.: 274 Cov.: 32 AF XY: 0.00516 AC XY: 3432AN XY: 665168
GnomAD4 genome AF: 0.0349 AC: 5308AN: 152212Hom.: 261 Cov.: 31 AF XY: 0.0335 AC XY: 2492AN XY: 74416
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 11, 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