5-131647131-C-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_133372.3(FNIP1):c.3381G>T(p.Gly1127=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,168 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G1127G) has been classified as Likely benign.
Frequency
Consequence
NM_133372.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FNIP1 | NM_133372.3 | c.3381G>T | p.Gly1127= | synonymous_variant | 17/18 | ENST00000510461.6 | |
FNIP1 | NM_001008738.3 | c.3297G>T | p.Gly1099= | synonymous_variant | 16/17 | ||
FNIP1 | NM_001346114.2 | c.3246G>T | p.Gly1082= | synonymous_variant | 16/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FNIP1 | ENST00000510461.6 | c.3381G>T | p.Gly1127= | synonymous_variant | 17/18 | 1 | NM_133372.3 | P4 | |
FNIP1 | ENST00000307954.12 | c.3246G>T | p.Gly1082= | synonymous_variant | 16/17 | 1 | |||
FNIP1 | ENST00000307968.11 | c.3297G>T | p.Gly1099= | synonymous_variant | 16/17 | 5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251458Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135898
GnomAD4 exome Cov.: 31
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74328
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Mar 21, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at