chr14-94284138-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001100607.3(SERPINA10):āc.1162A>Gā(p.Ile388Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,614,044 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001100607.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINA10 | NM_001100607.3 | c.1162A>G | p.Ile388Val | missense_variant | 5/5 | ENST00000261994.9 | |
SERPINA10 | NM_016186.3 | c.1162A>G | p.Ile388Val | missense_variant | 5/5 | ||
SERPINA10 | XM_017021353.2 | c.1282A>G | p.Ile428Val | missense_variant | 6/6 | ||
SERPINA10 | XM_005267733.6 | c.1162A>G | p.Ile388Val | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINA10 | ENST00000261994.9 | c.1162A>G | p.Ile388Val | missense_variant | 5/5 | 1 | NM_001100607.3 | A2 | |
SERPINA10 | ENST00000554723.5 | c.1282A>G | p.Ile428Val | missense_variant | 5/5 | 1 | P4 | ||
SERPINA10 | ENST00000393096.5 | c.1162A>G | p.Ile388Val | missense_variant | 5/5 | 1 | A2 | ||
SERPINA10 | ENST00000554173.1 | c.1162A>G | p.Ile388Val | missense_variant | 4/4 | 1 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152244Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250170Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135324
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461800Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727220
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152244Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 17, 2023 | The c.1162A>G (p.I388V) alteration is located in exon 5 (coding exon 4) of the SERPINA10 gene. This alteration results from a A to G substitution at nucleotide position 1162, causing the isoleucine (I) at amino acid position 388 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