11-18269746-T-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_199161.5(SAA1):c.260T>C(p.Phe87Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000239 in 1,614,020 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_199161.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SAA1 | NM_199161.5 | c.260T>C | p.Phe87Ser | missense_variant | Exon 4 of 4 | ENST00000356524.9 | NP_954630.2 | |
SAA1 | NM_000331.6 | c.260T>C | p.Phe87Ser | missense_variant | Exon 4 of 4 | NP_000322.3 | ||
SAA1 | NM_001178006.3 | c.260T>C | p.Phe87Ser | missense_variant | Exon 5 of 5 | NP_001171477.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00104 AC: 158AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000374 AC: 94AN: 251280Hom.: 0 AF XY: 0.000236 AC XY: 32AN XY: 135818
GnomAD4 exome AF: 0.000155 AC: 227AN: 1461694Hom.: 0 Cov.: 31 AF XY: 0.000155 AC XY: 113AN XY: 727160
GnomAD4 genome AF: 0.00104 AC: 159AN: 152326Hom.: 0 Cov.: 33 AF XY: 0.00109 AC XY: 81AN XY: 74492
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at