3-14517196-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001080423.4(GRIP2):āc.1174T>Cā(p.Phe392Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F392V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001080423.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRIP2 | NM_001080423.4 | c.1174T>C | p.Phe392Leu | missense_variant | 11/24 | ENST00000621039.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRIP2 | ENST00000621039.5 | c.1174T>C | p.Phe392Leu | missense_variant | 11/24 | 1 | NM_001080423.4 | P2 | |
GRIP2 | ENST00000619221.4 | c.1465T>C | p.Phe489Leu | missense_variant | 12/25 | 5 | |||
GRIP2 | ENST00000637182.1 | c.1189T>C | p.Phe397Leu | missense_variant | 11/24 | 5 | A1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.94e-7 AC: 1AN: 1441010Hom.: 0 Cov.: 30 AF XY: 0.00000140 AC XY: 1AN XY: 716076
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 31, 2024 | The c.1465T>C (p.F489L) alteration is located in exon 12 (coding exon 12) of the GRIP2 gene. This alteration results from a T to C substitution at nucleotide position 1465, causing the phenylalanine (F) at amino acid position 489 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.