NM_001384272.1:c.602C>G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001384272.1(HCRTR2):c.602C>G(p.Ala201Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000682 in 1,613,866 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_001384272.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HCRTR2 | NM_001384272.1 | c.602C>G | p.Ala201Gly | missense_variant | Exon 3 of 7 | ENST00000370862.4 | NP_001371201.1 | |
HCRTR2 | NM_001526.5 | c.602C>G | p.Ala201Gly | missense_variant | Exon 4 of 8 | NP_001517.2 | ||
HCRTR2 | XM_017010798.2 | c.602C>G | p.Ala201Gly | missense_variant | Exon 4 of 9 | XP_016866287.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HCRTR2 | ENST00000370862.4 | c.602C>G | p.Ala201Gly | missense_variant | Exon 3 of 7 | 1 | NM_001384272.1 | ENSP00000359899.3 | ||
HCRTR2 | ENST00000615358.4 | c.602C>G | p.Ala201Gly | missense_variant | Exon 4 of 8 | 1 | ENSP00000477548.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251126Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135712
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461778Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727196
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.602C>G (p.A201G) alteration is located in exon 3 (coding exon 3) of the HCRTR2 gene. This alteration results from a C to G substitution at nucleotide position 602, causing the alanine (A) at amino acid position 201 to be replaced by a glycine (G). 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