rs201607907
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001040179.2(MCHR2):c.493G>T(p.Ala165Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000157 in 1,612,988 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001040179.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MCHR2 | NM_001040179.2 | c.493G>T | p.Ala165Ser | missense_variant | Exon 4 of 6 | ENST00000281806.7 | NP_001035269.1 | |
MCHR2 | NM_032503.3 | c.493G>T | p.Ala165Ser | missense_variant | Exon 4 of 6 | NP_115892.2 | ||
MCHR2 | XM_024446571.2 | c.493G>T | p.Ala165Ser | missense_variant | Exon 4 of 6 | XP_024302339.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152046Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000996 AC: 25AN: 250898Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135570
GnomAD4 exome AF: 0.000162 AC: 237AN: 1460942Hom.: 0 Cov.: 30 AF XY: 0.000160 AC XY: 116AN XY: 726772
GnomAD4 genome AF: 0.000105 AC: 16AN: 152046Hom.: 0 Cov.: 31 AF XY: 0.0000943 AC XY: 7AN XY: 74268
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.493G>T (p.A165S) alteration is located in exon 4 (coding exon 3) of the MCHR2 gene. This alteration results from a G to T substitution at nucleotide position 493, causing the alanine (A) at amino acid position 165 to be replaced by a serine (S). 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