chr8-42950396-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_032410.4(HOOK3):c.409C>G(p.Gln137Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000137 in 1,607,140 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032410.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HOOK3 | ENST00000307602.9 | c.409C>G | p.Gln137Glu | missense_variant | Exon 6 of 22 | 1 | NM_032410.4 | ENSP00000305699.3 | ||
HOOK3 | ENST00000527306.1 | n.595C>G | non_coding_transcript_exon_variant | Exon 6 of 16 | 1 | |||||
HOOK3 | ENST00000533539.2 | c.409C>G | p.Gln137Glu | missense_variant | Exon 6 of 23 | 3 | ENSP00000433953.2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152058Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250444Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135406
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1455082Hom.: 0 Cov.: 27 AF XY: 0.0000180 AC XY: 13AN XY: 724178
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152058Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74256
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.409C>G (p.Q137E) alteration is located in exon 6 (coding exon 6) of the HOOK3 gene. This alteration results from a C to G substitution at nucleotide position 409, causing the glutamine (Q) at amino acid position 137 to be replaced by a glutamic acid (E). 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