chr3-121632368-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005335.6(HCLS1):c.1204G>A(p.Glu402Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000558 in 1,614,008 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005335.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HCLS1 | ENST00000314583.8 | c.1204G>A | p.Glu402Lys | missense_variant | Exon 12 of 14 | 1 | NM_005335.6 | ENSP00000320176.3 | ||
HCLS1 | ENST00000428394.6 | c.1093G>A | p.Glu365Lys | missense_variant | Exon 11 of 13 | 2 | ENSP00000387645.2 | |||
HCLS1 | ENST00000473883.5 | n.2007G>A | non_coding_transcript_exon_variant | Exon 7 of 9 | 2 | |||||
HCLS1 | ENST00000495491.5 | n.*519G>A | downstream_gene_variant | 2 | ENSP00000418299.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152128Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248894Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134732
GnomAD4 exome AF: 0.0000568 AC: 83AN: 1461880Hom.: 0 Cov.: 34 AF XY: 0.0000454 AC XY: 33AN XY: 727240
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152128Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1204G>A (p.E402K) alteration is located in exon 12 (coding exon 11) of the HCLS1 gene. This alteration results from a G to A substitution at nucleotide position 1204, causing the glutamic acid (E) at amino acid position 402 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