8-104354881-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030788.4(DCSTAMP):c.1034A>C(p.Gln345Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000551 in 1,577,820 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030788.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DCSTAMP | NM_030788.4 | c.1034A>C | p.Gln345Pro | missense_variant | 3/4 | ENST00000297581.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DCSTAMP | ENST00000297581.2 | c.1034A>C | p.Gln345Pro | missense_variant | 3/4 | 1 | NM_030788.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000340 AC: 8AN: 235092Hom.: 0 AF XY: 0.0000473 AC XY: 6AN XY: 126978
GnomAD4 exome AF: 0.0000596 AC: 85AN: 1425598Hom.: 0 Cov.: 30 AF XY: 0.0000663 AC XY: 47AN XY: 708422
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 22, 2023 | The c.1034A>C (p.Q345P) alteration is located in exon 3 (coding exon 2) of the DCSTAMP gene. This alteration results from a A to C substitution at nucleotide position 1034, causing the glutamine (Q) at amino acid position 345 to be replaced by a proline (P). 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