11-18269285-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_199161.5(SAA1):c.182A>T(p.Asp61Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000568 in 1,585,696 control chromosomes in the GnomAD database, with no homozygous occurrence. 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.182A>T | p.Asp61Val | missense_variant | Exon 3 of 4 | ENST00000356524.9 | NP_954630.2 | |
SAA1 | NM_000331.6 | c.182A>T | p.Asp61Val | missense_variant | Exon 3 of 4 | NP_000322.3 | ||
SAA1 | NM_001178006.3 | c.182A>T | p.Asp61Val | missense_variant | Exon 4 of 5 | NP_001171477.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151782Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.00000453 AC: 1AN: 220702Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 119556
GnomAD4 exome AF: 0.00000488 AC: 7AN: 1433914Hom.: 0 Cov.: 49 AF XY: 0.00000563 AC XY: 4AN XY: 710188
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151782Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74114
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.182A>T (p.D61V) alteration is located in exon 3 (coding exon 2) of the SAA1 gene. This alteration results from a A to T substitution at nucleotide position 182, causing the aspartic acid (D) at amino acid position 61 to be replaced by a valine (V). 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