chr14-94286186-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001100607.3(SERPINA10):āc.1065G>Cā(p.Met355Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,613,980 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINA10 | NM_001100607.3 | c.1065G>C | p.Met355Ile | missense_variant | 4/5 | ENST00000261994.9 | |
SERPINA10 | NM_016186.3 | c.1065G>C | p.Met355Ile | missense_variant | 4/5 | ||
SERPINA10 | XM_017021353.2 | c.1185G>C | p.Met395Ile | missense_variant | 5/6 | ||
SERPINA10 | XM_005267733.6 | c.1065G>C | p.Met355Ile | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINA10 | ENST00000261994.9 | c.1065G>C | p.Met355Ile | missense_variant | 4/5 | 1 | NM_001100607.3 | A2 | |
SERPINA10 | ENST00000554723.5 | c.1185G>C | p.Met395Ile | missense_variant | 4/5 | 1 | P4 | ||
SERPINA10 | ENST00000393096.5 | c.1065G>C | p.Met355Ile | missense_variant | 4/5 | 1 | A2 | ||
SERPINA10 | ENST00000554173.1 | c.1065G>C | p.Met355Ile | missense_variant | 3/4 | 1 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251398Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135858
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461834Hom.: 0 Cov.: 32 AF XY: 0.00000688 AC XY: 5AN XY: 727216
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 02, 2024 | The c.1065G>C (p.M355I) alteration is located in exon 4 (coding exon 3) of the SERPINA10 gene. This alteration results from a G to C substitution at nucleotide position 1065, causing the methionine (M) at amino acid position 355 to be replaced by an isoleucine (I). 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