NM_001013631.3:c.442C>A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001013631.3(HNRNPCL1):c.442C>A(p.Leu148Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000274 in 1,606,314 control chromosomes in the GnomAD database, including 7 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 Likely benign (★).
Frequency
Consequence
NM_001013631.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000200 AC: 3AN: 149944Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000485 AC: 12AN: 247368Hom.: 4 AF XY: 0.0000447 AC XY: 6AN XY: 134094
GnomAD4 exome AF: 0.0000282 AC: 41AN: 1456268Hom.: 7 Cov.: 33 AF XY: 0.0000442 AC XY: 32AN XY: 724398
GnomAD4 genome AF: 0.0000200 AC: 3AN: 150046Hom.: 0 Cov.: 30 AF XY: 0.0000410 AC XY: 3AN XY: 73168
ClinVar
Submissions by phenotype
not provided Benign:1
HNRNPCL1: BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at