11-117204298-A-G
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_003186.5(TAGLN):āc.545A>Gā(p.Asn182Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000652 in 1,614,246 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_003186.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAGLN | NM_003186.5 | c.545A>G | p.Asn182Ser | missense_variant | Exon 5 of 5 | ENST00000392951.9 | NP_003177.2 | |
TAGLN | NM_001001522.2 | c.545A>G | p.Asn182Ser | missense_variant | Exon 5 of 5 | NP_001001522.1 | ||
PCSK7 | NM_004716.4 | c.*1699T>C | downstream_gene_variant | ENST00000320934.8 | NP_004707.2 | |||
PCSK7 | XM_006718940.5 | c.*1699T>C | downstream_gene_variant | XP_006719003.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00352 AC: 536AN: 152236Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000867 AC: 218AN: 251466Hom.: 3 AF XY: 0.000589 AC XY: 80AN XY: 135912
GnomAD4 exome AF: 0.000351 AC: 513AN: 1461892Hom.: 3 Cov.: 31 AF XY: 0.000305 AC XY: 222AN XY: 727246
GnomAD4 genome AF: 0.00354 AC: 539AN: 152354Hom.: 3 Cov.: 32 AF XY: 0.00326 AC XY: 243AN XY: 74514
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at