1-210241623-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_019605.5(SERTAD4):c.357C>G(p.Ile119Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000417 in 1,608,074 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019605.5 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 |
---|---|---|---|---|---|---|---|---|
SERTAD4 | NM_019605.5 | c.357C>G | p.Ile119Met | missense_variant | Exon 4 of 4 | ENST00000367012.4 | NP_062551.1 | |
SERTAD4 | NM_001375428.1 | c.357C>G | p.Ile119Met | missense_variant | Exon 4 of 4 | NP_001362357.1 | ||
SERTAD4 | NM_001354173.2 | c.291+2015C>G | intron_variant | Intron 3 of 4 | NP_001341102.1 | |||
SERTAD4 | XM_047425536.1 | c.291+2015C>G | intron_variant | Intron 3 of 4 | XP_047281492.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERTAD4 | ENST00000367012.4 | c.357C>G | p.Ile119Met | missense_variant | Exon 4 of 4 | 1 | NM_019605.5 | ENSP00000355979.3 | ||
SERTAD4 | ENST00000490620.5 | n.561C>G | non_coding_transcript_exon_variant | Exon 4 of 4 | 4 | |||||
SERTAD4 | ENST00000482421.1 | n.309+2015C>G | intron_variant | Intron 2 of 3 | 3 | |||||
SERTAD4 | ENST00000483884.1 | n.158+3488C>G | intron_variant | Intron 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000135 AC: 2AN: 148592Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000360 AC: 9AN: 250298Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135312
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1459482Hom.: 0 Cov.: 35 AF XY: 0.0000399 AC XY: 29AN XY: 725948
GnomAD4 genome AF: 0.0000135 AC: 2AN: 148592Hom.: 0 Cov.: 31 AF XY: 0.0000139 AC XY: 1AN XY: 72190
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.357C>G (p.I119M) alteration is located in exon 4 (coding exon 3) of the SERTAD4 gene. This alteration results from a C to G substitution at nucleotide position 357, causing the isoleucine (I) at amino acid position 119 to be replaced by a methionine (M). 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