1-57015201-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001365792.1(DAB1):c.1126C>G(p.Pro376Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,614,062 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_001365792.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DAB1 | NM_001365792.1 | c.1126C>G | p.Pro376Ala | missense_variant | 12/15 | ENST00000371236.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DAB1 | ENST00000371236.7 | c.1126C>G | p.Pro376Ala | missense_variant | 12/15 | 5 | NM_001365792.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000854 AC: 13AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251150Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135726
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461766Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727176
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152296Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 03, 2023 | The c.1126C>G (p.P376A) alteration is located in exon 14 (coding exon 11) of the DAB1 gene. This alteration results from a C to G substitution at nucleotide position 1126, causing the proline (P) at amino acid position 376 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