11-34882808-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_015957.4(APIP):c.638G>T(p.Cys213Phe) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015957.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APIP | NM_015957.4 | c.638G>T | p.Cys213Phe | missense_variant | Exon 7 of 7 | ENST00000395787.4 | NP_057041.2 | |
APIP | XM_011520154.4 | c.689G>T | p.Cys230Phe | missense_variant | Exon 8 of 8 | XP_011518456.1 | ||
APIP | XM_017017875.3 | c.422G>T | p.Cys141Phe | missense_variant | Exon 8 of 8 | XP_016873364.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
APIP | ENST00000395787.4 | c.638G>T | p.Cys213Phe | missense_variant | Exon 7 of 7 | 1 | NM_015957.4 | ENSP00000379133.3 | ||
APIP | ENST00000532428.6 | n.497G>T | non_coding_transcript_exon_variant | Exon 5 of 8 | 1 | ENSP00000474191.1 | ||||
APIP | ENST00000527830.1 | n.604G>T | non_coding_transcript_exon_variant | Exon 6 of 6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.638G>T (p.C213F) alteration is located in exon 7 (coding exon 7) of the APIP gene. This alteration results from a G to T substitution at nucleotide position 638, causing the cysteine (C) at amino acid position 213 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.