7-37914238-C-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_003014.4(SFRP4):c.567G>A(p.Thr189Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.43 in 1,612,808 control chromosomes in the GnomAD database, including 151,674 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_003014.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SFRP4 | ENST00000436072.7 | c.567G>A | p.Thr189Thr | synonymous_variant | Exon 3 of 6 | 1 | NM_003014.4 | ENSP00000410715.2 | ||
ENSG00000290149 | ENST00000476620.1 | c.-37-34602C>T | intron_variant | Intron 2 of 3 | 4 | ENSP00000425858.1 | ||||
SFRP4 | ENST00000447200.2 | c.165G>A | p.Thr55Thr | synonymous_variant | Exon 4 of 6 | 5 | ENSP00000402262.2 |
Frequencies
GnomAD3 genomes AF: 0.445 AC: 67626AN: 151898Hom.: 15364 Cov.: 33
GnomAD3 exomes AF: 0.460 AC: 115715AN: 251382Hom.: 27551 AF XY: 0.463 AC XY: 62859AN XY: 135868
GnomAD4 exome AF: 0.428 AC: 625023AN: 1460792Hom.: 136287 Cov.: 37 AF XY: 0.432 AC XY: 313782AN XY: 726760
GnomAD4 genome AF: 0.445 AC: 67686AN: 152016Hom.: 15387 Cov.: 33 AF XY: 0.451 AC XY: 33555AN XY: 74322
ClinVar
Submissions by phenotype
Pyle metaphyseal dysplasia Benign:1
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not provided Benign:1
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SFRP4-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at