NM_032139.3:c.2641G>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032139.3(ANKRD27):c.2641G>A(p.Asp881Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000036 in 1,612,460 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032139.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152252Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000757 AC: 19AN: 251058Hom.: 0 AF XY: 0.000111 AC XY: 15AN XY: 135730
GnomAD4 exome AF: 0.0000377 AC: 55AN: 1460208Hom.: 1 Cov.: 30 AF XY: 0.0000509 AC XY: 37AN XY: 726318
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152252Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74388
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2641G>A (p.D881N) alteration is located in exon 25 (coding exon 24) of the ANKRD27 gene. This alteration results from a G to A substitution at nucleotide position 2641, causing the aspartic acid (D) at amino acid position 881 to be replaced by an asparagine (N). 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