X-155026961-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_023934.4(FUNDC2):c.23C>A(p.Ala8Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000056 in 1,197,422 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 26 hemizygotes in GnomAD. In-silico tool predicts 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 Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000891 AC: 1AN: 112173Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34349
GnomAD3 exomes AF: 0.0000327 AC: 5AN: 152880Hom.: 0 AF XY: 0.0000211 AC XY: 1AN XY: 47408
GnomAD4 exome AF: 0.0000608 AC: 66AN: 1085249Hom.: 0 Cov.: 31 AF XY: 0.0000733 AC XY: 26AN XY: 354839
GnomAD4 genome AF: 0.00000891 AC: 1AN: 112173Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34349
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.23C>A (p.A8D) alteration is located in exon 1 (coding exon 1) of the FUNDC2 gene. This alteration results from a C to A substitution at nucleotide position 23, causing the alanine (A) at amino acid position 8 to be replaced by an aspartic acid (D). 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