chr8-38417331-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_023110.3(FGFR1):c.1638C>T(p.Asn546Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,613,628 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_023110.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FGFR1 | ENST00000447712.7 | c.1638C>T | p.Asn546Asn | synonymous_variant | 12/18 | 1 | NM_023110.3 | ENSP00000400162.2 | ||
FGFR1 | ENST00000397091.9 | c.1632C>T | p.Asn544Asn | synonymous_variant | 12/18 | 1 | ENSP00000380280.5 | |||
FGFR1 | ENST00000397108.8 | c.1632C>T | p.Asn544Asn | synonymous_variant | 13/19 | 1 | ENSP00000380297.4 | |||
FGFR1 | ENST00000397113.6 | c.1632C>T | p.Asn544Asn | synonymous_variant | 12/18 | 2 | ENSP00000380302.2 | |||
FGFR1 | ENST00000356207.9 | c.1371C>T | p.Asn457Asn | synonymous_variant | 11/17 | 1 | ENSP00000348537.5 | |||
FGFR1 | ENST00000397103.5 | c.1371C>T | p.Asn457Asn | synonymous_variant | 10/16 | 5 | ENSP00000380292.1 | |||
FGFR1 | ENST00000326324.10 | c.1365C>T | p.Asn455Asn | synonymous_variant | 11/17 | 1 | ENSP00000327229.6 | |||
FGFR1 | ENST00000487647.5 | n.*1329C>T | non_coding_transcript_exon_variant | 11/12 | 1 | ENSP00000435254.1 | ||||
FGFR1 | ENST00000487647.5 | n.*1329C>T | 3_prime_UTR_variant | 11/12 | 1 | ENSP00000435254.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249806Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135502
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461452Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727050
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at