NM_006620.4:c.781C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006620.4(HBS1L):c.781C>T(p.Leu261Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,613,906 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HBS1L | NM_006620.4 | c.781C>T | p.Leu261Phe | missense_variant | Exon 6 of 18 | ENST00000367837.10 | NP_006611.1 | |
HBS1L | NM_001145158.2 | c.655C>T | p.Leu219Phe | missense_variant | Exon 5 of 17 | NP_001138630.1 | ||
HBS1L | NM_001363686.2 | c.289C>T | p.Leu97Phe | missense_variant | Exon 7 of 19 | NP_001350615.1 | ||
HBS1L | XM_047418093.1 | c.781C>T | p.Leu261Phe | missense_variant | Exon 6 of 16 | XP_047274049.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152160Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461746Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727182
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152160Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.781C>T (p.L261F) alteration is located in exon 6 (coding exon 6) of the HBS1L gene. This alteration results from a C to T substitution at nucleotide position 781, causing the leucine (L) at amino acid position 261 to be replaced by a phenylalanine (F). 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