2-95853744-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001393982.1(ANKRD36C):c.6136G>A(p.Asp2046Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00758 in 1,594,738 control chromosomes in the GnomAD database, including 77 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001393982.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD36C | ENST00000295246.7 | c.6136G>A | p.Asp2046Asn | missense_variant | Exon 84 of 88 | 5 | NM_001393982.1 | ENSP00000295246.7 | ||
ANKRD36C | ENST00000612359.4 | c.190G>A | p.Asp64Asn | missense_variant | Exon 2 of 6 | 1 | ENSP00000485004.1 | |||
ANKRD36C | ENST00000488721.5 | n.1286G>A | non_coding_transcript_exon_variant | Exon 4 of 4 | 1 | |||||
ANKRD36C | ENST00000456556.5 | c.5113G>A | p.Asp1705Asn | missense_variant | Exon 64 of 67 | 5 | ENSP00000403302.1 |
Frequencies
GnomAD3 genomes AF: 0.00500 AC: 760AN: 152078Hom.: 2 Cov.: 30
GnomAD3 exomes AF: 0.00544 AC: 1066AN: 196092Hom.: 4 AF XY: 0.00582 AC XY: 605AN XY: 103952
GnomAD4 exome AF: 0.00785 AC: 11324AN: 1442542Hom.: 75 Cov.: 30 AF XY: 0.00784 AC XY: 5611AN XY: 715792
GnomAD4 genome AF: 0.00499 AC: 760AN: 152196Hom.: 2 Cov.: 30 AF XY: 0.00504 AC XY: 375AN XY: 74390
ClinVar
Submissions by phenotype
not provided Benign:1
ANKRD36C: BP4, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at