rs587776722
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000354.6(SERPINA7):c.1044+5G>A variant causes a splice donor 5th base, intron change. The variant allele was found at a frequency of 0.000000913 in 1,095,601 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as association (no stars).
Frequency
Consequence
NM_000354.6 splice_donor_5th_base, intron
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.1044+5G>A | splice_donor_5th_base_variant, intron_variant | ENST00000372563.2 | |||
SERPINA7 | XM_005262180.5 | c.1044+5G>A | splice_donor_5th_base_variant, intron_variant | ||||
SERPINA7 | XM_006724683.3 | c.1044+5G>A | splice_donor_5th_base_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINA7 | ENST00000372563.2 | c.1044+5G>A | splice_donor_5th_base_variant, intron_variant | 5 | NM_000354.6 | P1 | |||
SERPINA7 | ENST00000327674.8 | c.1044+5G>A | splice_donor_5th_base_variant, intron_variant | 1 | P1 | ||||
SERPINA7 | ENST00000487487.1 | n.317+5G>A | splice_donor_5th_base_variant, intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD4 exome AF: 9.13e-7 AC: 1AN: 1095601Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 361297
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, 2002 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at