rs767321403
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006620.4(HBS1L):c.1480G>C(p.Asp494His) variant causes a missense change. The variant allele was found at a frequency of 0.00000499 in 1,603,594 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006620.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HBS1L | NM_006620.4 | c.1480G>C | p.Asp494His | missense_variant | Exon 12 of 18 | ENST00000367837.10 | NP_006611.1 | |
HBS1L | NM_001145158.2 | c.1354G>C | p.Asp452His | missense_variant | Exon 11 of 17 | NP_001138630.1 | ||
HBS1L | NM_001363686.2 | c.988G>C | p.Asp330His | missense_variant | Exon 13 of 19 | NP_001350615.1 | ||
HBS1L | XM_047418093.1 | c.1480G>C | p.Asp494His | missense_variant | Exon 12 of 16 | XP_047274049.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151698Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000162 AC: 4AN: 246318Hom.: 0 AF XY: 0.00000750 AC XY: 1AN XY: 133310
GnomAD4 exome AF: 0.00000276 AC: 4AN: 1451896Hom.: 0 Cov.: 28 AF XY: 0.00000277 AC XY: 2AN XY: 722618
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151698Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74052
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1480G>C (p.D494H) alteration is located in exon 12 (coding exon 12) of the HBS1L gene. This alteration results from a G to C substitution at nucleotide position 1480, causing the aspartic acid (D) at amino acid position 494 to be replaced by a histidine (H). 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