chr4-94252634-A-C
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP2BP4_StrongBS2
The NM_020159.5(SMARCAD1):āc.908A>Cā(p.Gln303Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000172 in 1,568,728 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_020159.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMARCAD1 | NM_020159.5 | c.908A>C | p.Gln303Pro | missense_variant | 9/24 | ENST00000354268.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMARCAD1 | ENST00000354268.9 | c.908A>C | p.Gln303Pro | missense_variant | 9/24 | 1 | NM_020159.5 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000198 AC: 4AN: 202354Hom.: 0 AF XY: 0.0000273 AC XY: 3AN XY: 110062
GnomAD4 exome AF: 0.0000184 AC: 26AN: 1416500Hom.: 0 Cov.: 31 AF XY: 0.0000228 AC XY: 16AN XY: 702538
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74372
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 18, 2022 | The c.908A>C (p.Q303P) alteration is located in exon 9 (coding exon 8) of the SMARCAD1 gene. This alteration results from a A to C substitution at nucleotide position 908, causing the glutamine (Q) at amino acid position 303 to be replaced by a proline (P). 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