1-12847695-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001013631.3(HNRNPCL1):c.595G>A(p.Glu199Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000181 in 1,606,536 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000667 AC: 1AN: 149996Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 248594Hom.: 1 AF XY: 0.0000519 AC XY: 7AN XY: 134950
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1456438Hom.: 1 Cov.: 33 AF XY: 0.0000304 AC XY: 22AN XY: 724536
GnomAD4 genome AF: 0.00000666 AC: 1AN: 150098Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 73192
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.595G>A (p.E199K) alteration is located in exon 2 (coding exon 1) of the HNRNPCL1 gene. This alteration results from a G to A substitution at nucleotide position 595, causing the glutamic acid (E) at amino acid position 199 to be replaced by a lysine (K). 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