chr3-112047948-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001395507.1(TMPRSS7):c.940C>T(p.Arg314Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000694 in 1,613,978 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
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.940C>T | p.Arg314Trp | missense_variant | Exon 7 of 18 | ENST00000452346.7 | NP_001382436.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152094Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000882 AC: 22AN: 249482Hom.: 0 AF XY: 0.0000739 AC XY: 10AN XY: 135338
GnomAD4 exome AF: 0.0000650 AC: 95AN: 1461766Hom.: 0 Cov.: 32 AF XY: 0.0000605 AC XY: 44AN XY: 727194
GnomAD4 genome AF: 0.000112 AC: 17AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74412
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.562C>T (p.R188W) alteration is located in exon 5 (coding exon 4) of the TMPRSS7 gene. This alteration results from a C to T substitution at nucleotide position 562, causing the arginine (R) at amino acid position 188 to be replaced by a tryptophan (W). 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