8-104354957-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_030788.4(DCSTAMP):c.1110A>C(p.Lys370Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000448 in 1,613,638 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DCSTAMP | NM_030788.4 | c.1110A>C | p.Lys370Asn | missense_variant | 3/4 | ENST00000297581.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DCSTAMP | ENST00000297581.2 | c.1110A>C | p.Lys370Asn | missense_variant | 3/4 | 1 | NM_030788.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000197 AC: 30AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000446 AC: 112AN: 251122Hom.: 0 AF XY: 0.000413 AC XY: 56AN XY: 135708
GnomAD4 exome AF: 0.000474 AC: 693AN: 1461528Hom.: 1 Cov.: 32 AF XY: 0.000468 AC XY: 340AN XY: 727090
GnomAD4 genome ? AF: 0.000197 AC: 30AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74302
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 01, 2021 | The c.1110A>C (p.K370N) 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 1110, causing the lysine (K) at amino acid position 370 to be replaced by an asparagine (N). 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