2-97113750-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001354587.1(ANKRD36):c.11G>A(p.Gly4Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00126 in 1,608,904 control chromosomes in the GnomAD database, including 33 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001354587.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD36 | NM_001354587.1 | c.11G>A | p.Gly4Asp | missense_variant | Exon 1 of 76 | ENST00000420699.9 | NP_001341516.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD36 | ENST00000420699.9 | c.11G>A | p.Gly4Asp | missense_variant | Exon 1 of 76 | 5 | NM_001354587.1 | ENSP00000391950.4 | ||
ANKRD36 | ENST00000452478.2 | n.199G>A | non_coding_transcript_exon_variant | Exon 1 of 3 | 1 | |||||
ANKRD36 | ENST00000461153.7 | c.11G>A | p.Gly4Asp | missense_variant | Exon 1 of 75 | 5 | ENSP00000419530.3 | |||
ANKRD36 | ENST00000652721.1 | c.11G>A | p.Gly4Asp | missense_variant | Exon 1 of 76 | ENSP00000498611.1 |
Frequencies
GnomAD3 genomes AF: 0.00220 AC: 334AN: 151752Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.000687 AC: 170AN: 247564Hom.: 4 AF XY: 0.000669 AC XY: 90AN XY: 134554
GnomAD4 exome AF: 0.00116 AC: 1689AN: 1457048Hom.: 28 Cov.: 32 AF XY: 0.00122 AC XY: 882AN XY: 724768
GnomAD4 genome AF: 0.00220 AC: 334AN: 151856Hom.: 5 Cov.: 32 AF XY: 0.00208 AC XY: 154AN XY: 74146
ClinVar
Submissions by phenotype
not provided Benign:1
ANKRD36: BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at