chr7-44059633-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001014436.3(DBNL):c.1022A>C(p.Glu341Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000227 in 1,455,720 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001014436.3 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 |
---|---|---|---|---|---|---|---|
DBNL | NM_001014436.3 | c.1022A>C | p.Glu341Ala | missense_variant | 11/13 | ENST00000448521.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DBNL | ENST00000448521.6 | c.1022A>C | p.Glu341Ala | missense_variant | 11/13 | 1 | NM_001014436.3 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000408 AC: 1AN: 244924Hom.: 0 AF XY: 0.00000751 AC XY: 1AN XY: 133116
GnomAD4 exome AF: 0.0000227 AC: 33AN: 1455720Hom.: 0 Cov.: 33 AF XY: 0.0000221 AC XY: 16AN XY: 724240
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 05, 2023 | The c.1049A>C (p.E350A) alteration is located in exon 11 (coding exon 11) of the DBNL gene. This alteration results from a A to C substitution at nucleotide position 1049, causing the glutamic acid (E) at amino acid position 350 to be replaced by an alanine (A). 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