rs28937312
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PP3_StrongBS2_Supporting
The NM_000354.6(SERPINA7):āc.740T>Cā(p.Leu247Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000364 in 1,097,608 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as association (no stars).
Frequency
Consequence
NM_000354.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINA7 | NM_000354.6 | c.740T>C | p.Leu247Pro | missense_variant | 3/5 | ENST00000372563.2 | |
SERPINA7 | XM_006724683.3 | c.740T>C | p.Leu247Pro | missense_variant | 3/5 | ||
SERPINA7 | XM_005262180.5 | c.740T>C | p.Leu247Pro | missense_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINA7 | ENST00000372563.2 | c.740T>C | p.Leu247Pro | missense_variant | 3/5 | 5 | NM_000354.6 | P1 | |
SERPINA7 | ENST00000327674.8 | c.740T>C | p.Leu247Pro | missense_variant | 2/4 | 1 | P1 | ||
SERPINA7 | ENST00000487487.1 | n.13T>C | non_coding_transcript_exon_variant | 1/3 | 3 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.00000547 AC: 1AN: 182846Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67564
GnomAD4 exome AF: 0.00000364 AC: 4AN: 1097608Hom.: 0 Cov.: 31 AF XY: 0.00000551 AC XY: 2AN XY: 363110
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
Thyroxine-binding globulin quantitative trait locus Other:1
association, no assertion criteria provided | literature only | OMIM | Mar 01, 1992 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at