chr19-19630070-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016573.4(GMIP):c.2806A>T(p.Ile936Phe) 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 (★).
Frequency
Consequence
NM_016573.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GMIP | NM_016573.4 | c.2806A>T | p.Ile936Phe | missense_variant | Exon 21 of 21 | ENST00000203556.9 | NP_057657.2 | |
GMIP | NM_001288999.2 | c.2728A>T | p.Ile910Phe | missense_variant | Exon 20 of 20 | NP_001275928.1 | ||
GMIP | NM_001288998.2 | c.2719A>T | p.Ile907Phe | missense_variant | Exon 20 of 20 | NP_001275927.1 | ||
GMIP | XM_005259927.3 | c.2797A>T | p.Ile933Phe | missense_variant | Exon 21 of 21 | XP_005259984.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GMIP | ENST00000203556.9 | c.2806A>T | p.Ile936Phe | missense_variant | Exon 21 of 21 | 1 | NM_016573.4 | ENSP00000203556.3 | ||
GMIP | ENST00000587238.5 | c.2728A>T | p.Ile910Phe | missense_variant | Exon 20 of 20 | 1 | ENSP00000467054.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2806A>T (p.I936F) alteration is located in exon 21 (coding exon 21) of the GMIP gene. This alteration results from a A to T substitution at nucleotide position 2806, causing the isoleucine (I) at amino acid position 936 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
Publications
No publications associated with this variant yet.