11-18269302-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_199161.5(SAA1):c.199C>T(p.Pro67Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_199161.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SAA1 | NM_199161.5 | c.199C>T | p.Pro67Ser | missense_variant | Exon 3 of 4 | ENST00000356524.9 | NP_954630.2 | |
SAA1 | NM_000331.6 | c.199C>T | p.Pro67Ser | missense_variant | Exon 3 of 4 | NP_000322.3 | ||
SAA1 | NM_001178006.3 | c.199C>T | p.Pro67Ser | missense_variant | Exon 4 of 5 | NP_001171477.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000143 AC: 2AN: 1396928Hom.: 0 Cov.: 48 AF XY: 0.00000145 AC XY: 1AN XY: 688236
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.199C>T (p.P67S) alteration is located in exon 3 (coding exon 2) of the SAA1 gene. This alteration results from a C to T substitution at nucleotide position 199, causing the proline (P) at amino acid position 67 to be replaced by a serine (S). 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.