6-55174792-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001384272.1(HCRTR2):c.205C>T(p.Leu69Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,613,870 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_001384272.1 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 |
---|---|---|---|---|---|---|---|---|
HCRTR2 | NM_001384272.1 | c.205C>T | p.Leu69Phe | missense_variant | Exon 1 of 7 | ENST00000370862.4 | NP_001371201.1 | |
HCRTR2 | NM_001526.5 | c.205C>T | p.Leu69Phe | missense_variant | Exon 2 of 8 | NP_001517.2 | ||
HCRTR2 | XM_017010798.2 | c.205C>T | p.Leu69Phe | missense_variant | Exon 2 of 9 | XP_016866287.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152008Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461862Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727238
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152008Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74238
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.205C>T (p.L69F) alteration is located in exon 1 (coding exon 1) of the HCRTR2 gene. This alteration results from a C to T substitution at nucleotide position 205, causing the leucine (L) at amino acid position 69 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