chr7-91265127-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_003505.2(FZD1):c.247C>T(p.Pro83Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000719 in 1,530,522 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003505.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FZD1 | NM_003505.2 | c.247C>T | p.Pro83Ser | missense_variant | 1/1 | ENST00000287934.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FZD1 | ENST00000287934.4 | c.247C>T | p.Pro83Ser | missense_variant | 1/1 | NM_003505.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000609 AC: 9AN: 147684Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000761 AC: 1AN: 131338Hom.: 0 AF XY: 0.0000140 AC XY: 1AN XY: 71594
GnomAD4 exome AF: 0.00000145 AC: 2AN: 1382838Hom.: 0 Cov.: 28 AF XY: 0.00000146 AC XY: 1AN XY: 683626
GnomAD4 genome ? AF: 0.0000609 AC: 9AN: 147684Hom.: 0 Cov.: 33 AF XY: 0.0000555 AC XY: 4AN XY: 72032
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 28, 2023 | The c.247C>T (p.P83S) alteration is located in exon 1 (coding exon 1) of the FZD1 gene. This alteration results from a C to T substitution at nucleotide position 247, causing the proline (P) at amino acid position 83 to be replaced by a serine (S). 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