chr3-112049959-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001395507.1(TMPRSS7):c.1075G>T(p.Val359Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000778 in 1,568,856 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V359A) has been classified 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMPRSS7 | NM_001395507.1 | c.1075G>T | p.Val359Phe | missense_variant | 8/18 | ENST00000452346.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMPRSS7 | ENST00000452346.7 | c.1075G>T | p.Val359Phe | missense_variant | 8/18 | 5 | NM_001395507.1 | ||
TMPRSS7 | ENST00000419127.5 | c.697G>T | p.Val233Phe | missense_variant | 6/16 | 1 | P1 | ||
TMPRSS7 | ENST00000617607.4 | c.697G>T | p.Val233Phe | missense_variant | 5/15 | 5 | P1 | ||
TMPRSS7 | ENST00000435737.5 | c.*420G>T | 3_prime_UTR_variant, NMD_transcript_variant | 7/17 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000335 AC: 51AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000986 AC: 24AN: 243450Hom.: 0 AF XY: 0.0000682 AC XY: 9AN XY: 131962
GnomAD4 exome AF: 0.0000494 AC: 70AN: 1416602Hom.: 0 Cov.: 30 AF XY: 0.0000472 AC XY: 33AN XY: 699224
GnomAD4 genome AF: 0.000342 AC: 52AN: 152254Hom.: 0 Cov.: 32 AF XY: 0.000336 AC XY: 25AN XY: 74442
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 05, 2023 | The c.697G>T (p.V233F) alteration is located in exon 6 (coding exon 5) of the TMPRSS7 gene. This alteration results from a G to T substitution at nucleotide position 697, causing the valine (V) at amino acid position 233 to be replaced by a phenylalanine (F). 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