10-97771313-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003015.3(SFRP5):āc.521C>Gā(p.Ala174Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000115 in 1,568,648 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003015.3 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 |
---|---|---|---|---|---|---|---|
SFRP5 | NM_003015.3 | c.521C>G | p.Ala174Gly | missense_variant | 1/3 | ENST00000266066.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SFRP5 | ENST00000266066.4 | c.521C>G | p.Ala174Gly | missense_variant | 1/3 | 1 | NM_003015.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000658 AC: 10AN: 152042Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000329 AC: 6AN: 182328Hom.: 0 AF XY: 0.0000397 AC XY: 4AN XY: 100840
GnomAD4 exome AF: 0.000120 AC: 170AN: 1416606Hom.: 0 Cov.: 33 AF XY: 0.0000999 AC XY: 70AN XY: 700772
GnomAD4 genome ? AF: 0.0000658 AC: 10AN: 152042Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74246
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 27, 2024 | The c.521C>G (p.A174G) alteration is located in exon 1 (coding exon 1) of the SFRP5 gene. This alteration results from a C to G substitution at nucleotide position 521, causing the alanine (A) at amino acid position 174 to be replaced by a glycine (G). 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