11-118099072-C-T
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP6_Very_Strong
The NM_019894.4(TMPRSS4):c.131C>T(p.Ala44Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000485 in 1,613,860 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/27 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_019894.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMPRSS4 | ENST00000437212.8 | c.131C>T | p.Ala44Val | missense_variant | Exon 3 of 13 | 1 | NM_019894.4 | ENSP00000416037.3 | ||
TMPRSS4 | ENST00000522824.5 | c.131C>T | p.Ala44Val | missense_variant | Exon 3 of 13 | 1 | ENSP00000430547.1 |
Frequencies
GnomAD3 genomes AF: 0.000355 AC: 54AN: 151980Hom.: 0 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.000279 AC: 70AN: 251342 AF XY: 0.000317 show subpopulations
GnomAD4 exome AF: 0.000498 AC: 728AN: 1461762Hom.: 1 Cov.: 31 AF XY: 0.000459 AC XY: 334AN XY: 727192 show subpopulations
GnomAD4 genome AF: 0.000355 AC: 54AN: 152098Hom.: 0 Cov.: 31 AF XY: 0.000350 AC XY: 26AN XY: 74362 show subpopulations
ClinVar
Submissions by phenotype
not provided Benign:2
Has not been previously published as pathogenic or benign to our knowledge; Although in silico splice predictors suggest this variant may impact gene splicing, additional in silico analyses, which include protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function; however, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 30919572) -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at