2-164494488-T-G
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_004490.3(GRB14):c.1419A>C(p.Lys473Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000873 in 1,603,414 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004490.3 missense
Scores
Clinical Significance
Conservation
Publications
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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.1419A>C | p.Lys473Asn | missense_variant | Exon 13 of 14 | ENST00000263915.8 | NP_004481.2 | |
GRB14 | NM_001303422.2 | c.1158A>C | p.Lys386Asn | missense_variant | Exon 12 of 13 | NP_001290351.1 | ||
GRB14 | XM_047444013.1 | c.819A>C | p.Lys273Asn | missense_variant | Exon 12 of 13 | XP_047299969.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GRB14 | ENST00000263915.8 | c.1419A>C | p.Lys473Asn | missense_variant | Exon 13 of 14 | 1 | NM_004490.3 | ENSP00000263915.3 | ||
GRB14 | ENST00000696453.2 | c.1158A>C | p.Lys386Asn | missense_variant | Exon 12 of 13 | ENSP00000512640.1 | ||||
GRB14 | ENST00000488342.5 | n.1555A>C | non_coding_transcript_exon_variant | Exon 13 of 14 | 5 | |||||
GRB14 | ENST00000497306.1 | n.46-1306A>C | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152184Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000199 AC: 5AN: 251064 AF XY: 0.0000221 show subpopulations
GnomAD4 exome AF: 0.0000930 AC: 135AN: 1451230Hom.: 0 Cov.: 26 AF XY: 0.0000927 AC XY: 67AN XY: 722816 show subpopulations
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152184Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74340 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1419A>C (p.K473N) alteration is located in exon 13 (coding exon 13) of the GRB14 gene. This alteration results from a A to C substitution at nucleotide position 1419, causing the lysine (K) at amino acid position 473 to be replaced by an asparagine (N). 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