rs10305420
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002062.5(GLP1R):c.20C>T(p.Pro7Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.353 in 1,492,840 control chromosomes in the GnomAD database, including 99,598 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002062.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GLP1R | NM_002062.5 | c.20C>T | p.Pro7Leu | missense_variant | 1/13 | ENST00000373256.5 | |
GLP1R | NR_136562.2 | n.80C>T | non_coding_transcript_exon_variant | 1/14 | |||
GLP1R | NR_136563.2 | n.80C>T | non_coding_transcript_exon_variant | 1/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GLP1R | ENST00000373256.5 | c.20C>T | p.Pro7Leu | missense_variant | 1/13 | 1 | NM_002062.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.275 AC: 41868AN: 152062Hom.: 7296 Cov.: 33
GnomAD3 exomes AF: 0.314 AC: 36162AN: 114986Hom.: 6186 AF XY: 0.314 AC XY: 20706AN XY: 66020
GnomAD4 exome AF: 0.362 AC: 485715AN: 1340666Hom.: 92300 Cov.: 26 AF XY: 0.359 AC XY: 238369AN XY: 664558
GnomAD4 genome ? AF: 0.275 AC: 41860AN: 152174Hom.: 7298 Cov.: 33 AF XY: 0.275 AC XY: 20456AN XY: 74402
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at