rs121909065
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_004291.4(CARTPT):c.183G>C(p.Leu61Phe) variant causes a missense change. The variant allele was found at a frequency of 0.000101 in 1,614,104 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_004291.4 missense
Scores
Clinical Significance
Conservation
Publications
- inherited obesityInheritance: Unknown, AD Classification: LIMITED Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_004291.4. You can select a different transcript below to see updated ACMG assignments.
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152218Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.000127 AC: 32AN: 251486 AF XY: 0.000110 show subpopulations
GnomAD4 exome AF: 0.000105 AC: 153AN: 1461886Hom.: 1 Cov.: 32 AF XY: 0.000122 AC XY: 89AN XY: 727244 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74370 show subpopulations
Age Distribution
ClinVar
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at