3-112047897-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001395507.1(TMPRSS7):c.889G>A(p.Asp297Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000483 in 1,613,966 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMPRSS7 | NM_001395507.1 | c.889G>A | p.Asp297Asn | missense_variant | Exon 7 of 18 | ENST00000452346.7 | NP_001382436.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000987 AC: 15AN: 151988Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000100 AC: 25AN: 249464Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135330
GnomAD4 exome AF: 0.0000431 AC: 63AN: 1461860Hom.: 0 Cov.: 32 AF XY: 0.0000605 AC XY: 44AN XY: 727234
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152106Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.511G>A (p.D171N) alteration is located in exon 5 (coding exon 4) of the TMPRSS7 gene. This alteration results from a G to A substitution at nucleotide position 511, causing the aspartic acid (D) at amino acid position 171 to be replaced by an asparagine (N). 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