chr2-172088192-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_178120.5(DLX1):c.703C>T(p.Pro235Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000622 in 1,607,744 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178120.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000409 AC: 1AN: 244266Hom.: 0 AF XY: 0.00000756 AC XY: 1AN XY: 132280
GnomAD4 exome AF: 0.00000618 AC: 9AN: 1455534Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 2AN XY: 724080
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.703C>T (p.P235S) alteration is located in exon 3 (coding exon 3) of the DLX1 gene. This alteration results from a C to T substitution at nucleotide position 703, causing the proline (P) at amino acid position 235 to be replaced by a serine (S). 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