chr3-98800636-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_080927.4(DCBLD2):c.1801G>A(p.Glu601Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000483 in 1,613,794 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080927.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DCBLD2 | NM_080927.4 | c.1801G>A | p.Glu601Lys | missense_variant | Exon 15 of 16 | ENST00000326840.11 | NP_563615.3 | |
DCBLD2 | XM_011512419.3 | c.1573G>A | p.Glu525Lys | missense_variant | Exon 14 of 15 | XP_011510721.1 | ||
DCBLD2 | XM_024453348.2 | c.1483G>A | p.Glu495Lys | missense_variant | Exon 15 of 16 | XP_024309116.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DCBLD2 | ENST00000326840.11 | c.1801G>A | p.Glu601Lys | missense_variant | Exon 15 of 16 | 1 | NM_080927.4 | ENSP00000321573.6 | ||
DCBLD2 | ENST00000326857.9 | c.1843G>A | p.Glu615Lys | missense_variant | Exon 15 of 16 | 1 | ENSP00000321646.9 | |||
DCBLD2 | ENST00000496736.1 | n.453G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 3 | |||||
ST3GAL6 | ENST00000491912.1 | n.254-786C>T | intron_variant | Intron 2 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000116 AC: 29AN: 249094Hom.: 0 AF XY: 0.000104 AC XY: 14AN XY: 135132
GnomAD4 exome AF: 0.0000431 AC: 63AN: 1461654Hom.: 0 Cov.: 30 AF XY: 0.0000385 AC XY: 28AN XY: 727114
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1801G>A (p.E601K) alteration is located in exon 15 (coding exon 15) of the DCBLD2 gene. This alteration results from a G to A substitution at nucleotide position 1801, causing the glutamic acid (E) at amino acid position 601 to be replaced by a lysine (K). 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