chr10-93566826-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001195755.2(FFAR4):c.106C>T(p.Arg36Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000499 in 1,603,096 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_001195755.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FFAR4 | NM_001195755.2 | c.106C>T | p.Arg36Trp | missense_variant | 1/3 | ENST00000371481.9 | |
FFAR4 | NM_181745.4 | c.106C>T | p.Arg36Trp | missense_variant | 1/4 | ||
FFAR4 | XM_011539746.4 | c.106C>T | p.Arg36Trp | missense_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FFAR4 | ENST00000371481.9 | c.106C>T | p.Arg36Trp | missense_variant | 1/3 | 1 | NM_001195755.2 | P1 | |
FFAR4 | ENST00000371483.8 | c.106C>T | p.Arg36Trp | missense_variant | 1/4 | 1 | |||
FFAR4 | ENST00000604414.1 | c.106C>T | p.Arg36Trp | missense_variant | 1/3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152232Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000177 AC: 4AN: 226350Hom.: 0 AF XY: 0.0000243 AC XY: 3AN XY: 123704
GnomAD4 exome AF: 0.0000510 AC: 74AN: 1450864Hom.: 0 Cov.: 32 AF XY: 0.0000541 AC XY: 39AN XY: 721456
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 12, 2023 | The c.106C>T (p.R36W) alteration is located in exon 1 (coding exon 1) of the FFAR4 gene. This alteration results from a C to T substitution at nucleotide position 106, causing the arginine (R) at amino acid position 36 to be replaced by a tryptophan (W). 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