10-97771415-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003015.3(SFRP5):āc.419A>Gā(p.Glu140Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,460,744 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 (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E140D) has been classified as Uncertain significance.
Frequency
Consequence
NM_003015.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SFRP5 | NM_003015.3 | c.419A>G | p.Glu140Gly | missense_variant | 1/3 | ENST00000266066.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SFRP5 | ENST00000266066.4 | c.419A>G | p.Glu140Gly | missense_variant | 1/3 | 1 | NM_003015.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243406Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132340
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460744Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726672
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 02, 2022 | The c.419A>G (p.E140G) alteration is located in exon 1 (coding exon 1) of the SFRP5 gene. This alteration results from a A to G substitution at nucleotide position 419, causing the glutamic acid (E) at amino acid position 140 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