6-111661835-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_002037.5(FYN):āc.1518C>Gā(p.Asp506Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0135 in 1,614,168 control chromosomes in the GnomAD database, including 172 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002037.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FYN | NM_002037.5 | c.1518C>G | p.Asp506Glu | missense_variant | 14/14 | ENST00000354650.7 | NP_002028.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FYN | ENST00000354650.7 | c.1518C>G | p.Asp506Glu | missense_variant | 14/14 | 1 | NM_002037.5 | ENSP00000346671 | P3 |
Frequencies
GnomAD3 genomes AF: 0.00918 AC: 1397AN: 152182Hom.: 6 Cov.: 32
GnomAD3 exomes AF: 0.00913 AC: 2296AN: 251466Hom.: 25 AF XY: 0.00943 AC XY: 1282AN XY: 135914
GnomAD4 exome AF: 0.0139 AC: 20391AN: 1461868Hom.: 166 Cov.: 31 AF XY: 0.0138 AC XY: 10030AN XY: 727236
GnomAD4 genome AF: 0.00918 AC: 1398AN: 152300Hom.: 6 Cov.: 32 AF XY: 0.00830 AC XY: 618AN XY: 74476
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2022 | FYN: PP2, BS1, BS2 - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Oct 22, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at