2-164497030-T-A
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004490.3(GRB14):c.1360A>T(p.Ile454Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000837 in 1,613,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 17/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004490.3 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GRB14 | NM_004490.3 | c.1360A>T | p.Ile454Phe | missense_variant | Exon 12 of 14 | ENST00000263915.8 | NP_004481.2 | |
GRB14 | NM_001303422.2 | c.1099A>T | p.Ile367Phe | missense_variant | Exon 11 of 13 | NP_001290351.1 | ||
GRB14 | XM_047444013.1 | c.760A>T | p.Ile254Phe | missense_variant | Exon 11 of 13 | XP_047299969.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152206Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000120 AC: 30AN: 250752 AF XY: 0.000111 show subpopulations
GnomAD4 exome AF: 0.0000876 AC: 128AN: 1461562Hom.: 0 Cov.: 31 AF XY: 0.0000963 AC XY: 70AN XY: 727100 show subpopulations
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74354 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1360A>T (p.I454F) alteration is located in exon 12 (coding exon 12) of the GRB14 gene. This alteration results from a A to T substitution at nucleotide position 1360, causing the isoleucine (I) at amino acid position 454 to be replaced by a phenylalanine (F). 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