chr14-94309955-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001756.4(SERPINA6):c.665A>T(p.Tyr222Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001756.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINA6 | NM_001756.4 | c.665A>T | p.Tyr222Phe | missense_variant | 3/5 | ENST00000341584.4 | |
SERPINA6 | XM_047431827.1 | c.836A>T | p.Tyr279Phe | missense_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINA6 | ENST00000341584.4 | c.665A>T | p.Tyr222Phe | missense_variant | 3/5 | 1 | NM_001756.4 | P1 | |
SERPINA6 | ENST00000555056.1 | c.814A>T | p.Met272Leu | missense_variant, NMD_transcript_variant | 3/5 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 39
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 14, 2021 | The c.665A>T (p.Y222F) alteration is located in exon 3 (coding exon 2) of the SERPINA6 gene. This alteration results from a A to T substitution at nucleotide position 665, causing the tyrosine (Y) at amino acid position 222 to be replaced by a phenylalanine (F). 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
Publications
No publications associated with this variant yet.