chr8-12112898-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001039615.3(ZNF705D):c.643C>T(p.Leu215Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001039615.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 6
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000181 AC: 15AN: 829592Hom.: 3 Cov.: 12 AF XY: 0.0000119 AC XY: 5AN XY: 419666
GnomAD4 genome Cov.: 6
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.643C>T (p.L215F) alteration is located in exon 7 (coding exon 5) of the ZNF705D gene. This alteration results from a C to T substitution at nucleotide position 643, causing the leucine (L) at amino acid position 215 to be replaced by a phenylalanine (F). 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