chr3-98819276-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080927.4(DCBLD2):c.1013C>T(p.Pro338Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000112 in 1,612,630 control chromosomes in the GnomAD database, including 1 homozygotes. 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_080927.4 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 |
---|---|---|---|---|---|---|---|
DCBLD2 | NM_080927.4 | c.1013C>T | p.Pro338Leu | missense_variant | 8/16 | ENST00000326840.11 | |
DCBLD2 | XM_011512419.3 | c.785C>T | p.Pro262Leu | missense_variant | 7/15 | ||
DCBLD2 | XM_024453348.2 | c.695C>T | p.Pro232Leu | missense_variant | 8/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DCBLD2 | ENST00000326840.11 | c.1013C>T | p.Pro338Leu | missense_variant | 8/16 | 1 | NM_080927.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152020Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000932 AC: 23AN: 246660Hom.: 1 AF XY: 0.000105 AC XY: 14AN XY: 133820
GnomAD4 exome AF: 0.000110 AC: 160AN: 1460610Hom.: 1 Cov.: 31 AF XY: 0.000109 AC XY: 79AN XY: 726446
GnomAD4 genome AF: 0.000138 AC: 21AN: 152020Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74242
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2022 | The c.1013C>T (p.P338L) alteration is located in exon 8 (coding exon 8) of the DCBLD2 gene. This alteration results from a C to T substitution at nucleotide position 1013, causing the proline (P) at amino acid position 338 to be replaced by a leucine (L). 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