19-45677768-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000164.4(GIPR):āc.913A>Gā(p.Met305Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,612,844 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000164.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GIPR | NM_000164.4 | c.913A>G | p.Met305Val | missense_variant | 10/14 | ENST00000590918.6 | NP_000155.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GIPR | ENST00000590918.6 | c.913A>G | p.Met305Val | missense_variant | 10/14 | 1 | NM_000164.4 | ENSP00000467494 | P2 |
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152096Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251446Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135920
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1460748Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 726816
GnomAD4 genome AF: 0.000171 AC: 26AN: 152096Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 29, 2022 | The c.913A>G (p.M305V) alteration is located in exon 10 (coding exon 9) of the GIPR gene. This alteration results from a A to G substitution at nucleotide position 913, causing the methionine (M) at amino acid position 305 to be replaced by a valine (V). 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