rs7252121
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001395513.1(TMPRSS9):c.3233C>A(p.Thr1078Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,456,924 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001395513.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMPRSS9 | ENST00000696167.1 | c.3233C>A | p.Thr1078Asn | missense_variant | Exon 19 of 19 | NM_001395513.1 | ENSP00000512457.1 | |||
TIMM13 | ENST00000215570 | c.*909G>T | 3_prime_UTR_variant | Exon 3 of 3 | 1 | NM_012458.4 | ENSP00000215570.2 | |||
TMPRSS9 | ENST00000648592.1 | c.3233C>A | p.Thr1078Asn | missense_variant | Exon 18 of 18 | ENSP00000498031.1 | ||||
TMPRSS9 | ENST00000649857.1 | c.3131C>A | p.Thr1044Asn | missense_variant | Exon 18 of 18 | ENSP00000497651.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000409 AC: 1AN: 244376Hom.: 0 AF XY: 0.00000752 AC XY: 1AN XY: 132972
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1456924Hom.: 0 Cov.: 31 AF XY: 0.00000414 AC XY: 3AN XY: 724906
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at