rs6828
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PVS1_StrongPM2
The NM_002615.7(SERPINF1):c.963T>A(p.Tyr321Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. Y321Y) has been classified as Benign.
Frequency
Consequence
NM_002615.7 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINF1 | NM_002615.7 | c.963T>A | p.Tyr321Ter | stop_gained | 7/8 | ENST00000254722.9 | |
SERPINF1 | NM_001329903.2 | c.963T>A | p.Tyr321Ter | stop_gained | 7/8 | ||
SERPINF1 | NM_001329904.2 | c.402T>A | p.Tyr134Ter | stop_gained | 6/7 | ||
SERPINF1 | NM_001329905.2 | c.402T>A | p.Tyr134Ter | stop_gained | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINF1 | ENST00000254722.9 | c.963T>A | p.Tyr321Ter | stop_gained | 7/8 | 1 | NM_002615.7 | P1 | |
SERPINF1 | ENST00000573763.1 | c.357T>A | p.Tyr119Ter | stop_gained | 3/4 | 3 | |||
SERPINF1 | ENST00000572517.1 | n.259T>A | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 25
GnomAD4 exome Cov.: 61
GnomAD4 genome Cov.: 25
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at