chr19-35352171-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005303.3(FFAR1):c.620G>C(p.Arg207Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000628 in 1,608,272 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R207W) has been classified as Uncertain significance.
Frequency
Consequence
NM_005303.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FFAR1 | NM_005303.3 | c.620G>C | p.Arg207Pro | missense_variant | 2/2 | ENST00000246553.4 | |
FFAR1 | XM_047438698.1 | c.620G>C | p.Arg207Pro | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FFAR1 | ENST00000246553.4 | c.620G>C | p.Arg207Pro | missense_variant | 2/2 | NM_005303.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000592 AC: 9AN: 152088Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000711 AC: 17AN: 239058Hom.: 0 AF XY: 0.0000613 AC XY: 8AN XY: 130564
GnomAD4 exome AF: 0.0000632 AC: 92AN: 1456184Hom.: 0 Cov.: 31 AF XY: 0.0000635 AC XY: 46AN XY: 724544
GnomAD4 genome ? AF: 0.0000592 AC: 9AN: 152088Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74282
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 17, 2023 | The c.620G>C (p.R207P) alteration is located in exon 1 (coding exon 1) of the FFAR1 gene. This alteration results from a G to C substitution at nucleotide position 620, causing the arginine (R) at amino acid position 207 to be replaced by a proline (P). 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