chr14-70010807-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_001034852.3(SMOC1):c.718C>A(p.Gln240Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000044 in 1,614,108 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001034852.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMOC1 | NM_001034852.3 | c.718C>A | p.Gln240Lys | missense_variant | 8/12 | ENST00000361956.8 | |
SMOC1 | NM_022137.6 | c.718C>A | p.Gln240Lys | missense_variant | 8/12 | ||
SMOC1 | XM_005267995.2 | c.751C>A | p.Gln251Lys | missense_variant | 8/12 | ||
SMOC1 | XM_005267996.2 | c.751C>A | p.Gln251Lys | missense_variant | 8/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMOC1 | ENST00000361956.8 | c.718C>A | p.Gln240Lys | missense_variant | 8/12 | 1 | NM_001034852.3 | A2 | |
SMOC1 | ENST00000381280.4 | c.718C>A | p.Gln240Lys | missense_variant | 8/12 | 1 | P4 | ||
SMOC1 | ENST00000557483.1 | n.296C>A | non_coding_transcript_exon_variant | 2/3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000676 AC: 17AN: 251438Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135892
GnomAD4 exome AF: 0.0000451 AC: 66AN: 1461876Hom.: 0 Cov.: 34 AF XY: 0.0000426 AC XY: 31AN XY: 727240
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74378
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at