X-155027003-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_023934.4(FUNDC2):c.65C>G(p.Ala22Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000241 in 1,202,283 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 5 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_023934.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000116 AC: 13AN: 112129Hom.: 0 Cov.: 23 AF XY: 0.0000583 AC XY: 2AN XY: 34299
GnomAD3 exomes AF: 0.0000311 AC: 5AN: 160807Hom.: 0 AF XY: 0.0000191 AC XY: 1AN XY: 52281
GnomAD4 exome AF: 0.0000147 AC: 16AN: 1090154Hom.: 0 Cov.: 31 AF XY: 0.00000840 AC XY: 3AN XY: 357310
GnomAD4 genome AF: 0.000116 AC: 13AN: 112129Hom.: 0 Cov.: 23 AF XY: 0.0000583 AC XY: 2AN XY: 34299
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.65C>G (p.A22G) alteration is located in exon 1 (coding exon 1) of the FUNDC2 gene. This alteration results from a C to G substitution at nucleotide position 65, causing the alanine (A) at amino acid position 22 to be replaced by a glycine (G). 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