1-12847503-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001013631.3(HNRNPCL1):c.787G>T(p.Gly263Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000423 in 1,606,518 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001013631.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000200 AC: 3AN: 149870Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251160Hom.: 1 AF XY: 0.0000147 AC XY: 2AN XY: 135788
GnomAD4 exome AF: 0.0000446 AC: 65AN: 1456648Hom.: 5 Cov.: 32 AF XY: 0.0000511 AC XY: 37AN XY: 724624
GnomAD4 genome AF: 0.0000200 AC: 3AN: 149870Hom.: 0 Cov.: 30 AF XY: 0.0000137 AC XY: 1AN XY: 73006
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.787G>T (p.G263W) alteration is located in exon 2 (coding exon 1) of the HNRNPCL1 gene. This alteration results from a G to T substitution at nucleotide position 787, causing the glycine (G) at amino acid position 263 to be replaced by a tryptophan (W). 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