3-112047916-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001395507.1(TMPRSS7):āc.908C>Gā(p.Ser303Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,613,948 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001395507.1 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 |
---|---|---|---|---|---|---|---|---|
TMPRSS7 | NM_001395507.1 | c.908C>G | p.Ser303Cys | missense_variant | Exon 7 of 18 | ENST00000452346.7 | NP_001382436.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152082Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249532Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135366
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461866Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727234
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152082Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74270
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.530C>G (p.S177C) alteration is located in exon 5 (coding exon 4) of the TMPRSS7 gene. This alteration results from a C to G substitution at nucleotide position 530, causing the serine (S) at amino acid position 177 to be replaced by a cysteine (C). 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