chr9-136404181-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001039707.2(ENTR1):āc.1082A>Gā(p.Asn361Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000137 in 1,608,810 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001039707.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000489 AC: 12AN: 245410Hom.: 0 AF XY: 0.0000375 AC XY: 5AN XY: 133446
GnomAD4 exome AF: 0.0000124 AC: 18AN: 1456504Hom.: 0 Cov.: 33 AF XY: 0.00000967 AC XY: 7AN XY: 723956
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152306Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 03, 2023 | The c.1082A>G (p.N361S) alteration is located in exon 9 (coding exon 9) of the SDCCAG3 gene. This alteration results from a A to G substitution at nucleotide position 1082, causing the asparagine (N) at amino acid position 361 to be replaced by a serine (S). 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