7-100737049-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_003386.3(ZAN):āc.494C>Gā(p.Thr165Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000113 in 1,499,092 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003386.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000706 AC: 1AN: 141550Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.0000256 AC: 5AN: 194946Hom.: 1 AF XY: 0.00000938 AC XY: 1AN XY: 106614
GnomAD4 exome AF: 0.0000118 AC: 16AN: 1357542Hom.: 2 Cov.: 32 AF XY: 0.0000104 AC XY: 7AN XY: 673602
GnomAD4 genome AF: 0.00000706 AC: 1AN: 141550Hom.: 0 Cov.: 26 AF XY: 0.0000145 AC XY: 1AN XY: 69038
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 24, 2024 | The c.494C>G (p.T165S) alteration is located in exon 5 (coding exon 4) of the ZAN gene. This alteration results from a C to G substitution at nucleotide position 494, causing the threonine (T) at amino acid position 165 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