chr14-94469310-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_175739.4(SERPINA9):c.531C>G(p.Ser177Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,461,860 control chromosomes in the GnomAD database, including 2 homozygotes. 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 (★).
Frequency
Consequence
NM_175739.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINA9 | NM_175739.4 | c.531C>G | p.Ser177Arg | missense_variant | 2/5 | ENST00000674397.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINA9 | ENST00000674397.2 | c.531C>G | p.Ser177Arg | missense_variant | 2/5 | NM_175739.4 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000561 AC: 14AN: 249586Hom.: 2 AF XY: 0.0000886 AC XY: 12AN XY: 135408
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461860Hom.: 2 Cov.: 33 AF XY: 0.0000509 AC XY: 37AN XY: 727228
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 22, 2023 | The c.585C>G (p.S195R) alteration is located in exon 2 (coding exon 2) of the SERPINA9 gene. This alteration results from a C to G substitution at nucleotide position 585, causing the serine (S) at amino acid position 195 to be replaced by an arginine (R). 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