chr2-189694986-A-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001378068.1(ANKAR):c.1313A>C(p.Tyr438Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00121 in 1,500,866 control chromosomes in the GnomAD database, including 21 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0063 ( 9 hom., cov: 32)
Exomes 𝑓: 0.00063 ( 12 hom. )
Consequence
ANKAR
NM_001378068.1 missense
NM_001378068.1 missense
Scores
6
11
Clinical Significance
Conservation
PhyloP100: 4.78
Genes affected
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.009079933).
BP6
?
Variant 2-189694986-A-C is Benign according to our data. Variant chr2-189694986-A-C is described in ClinVar as [Benign]. Clinvar id is 785983.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00631 (961/152280) while in subpopulation AFR AF= 0.022 (914/41568). AF 95% confidence interval is 0.0208. There are 9 homozygotes in gnomad4. There are 447 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 9 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKAR | NM_001378068.1 | c.1313A>C | p.Tyr438Ser | missense_variant | 6/23 | ENST00000684021.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKAR | ENST00000684021.1 | c.1313A>C | p.Tyr438Ser | missense_variant | 6/23 | NM_001378068.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00632 AC: 961AN: 152162Hom.: 9 Cov.: 32
GnomAD3 genomes
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GnomAD3 exomes AF: 0.00154 AC: 313AN: 203450Hom.: 4 AF XY: 0.00113 AC XY: 126AN XY: 111340
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GnomAD4 exome AF: 0.000630 AC: 850AN: 1348586Hom.: 12 Cov.: 29 AF XY: 0.000573 AC XY: 381AN XY: 664372
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GnomAD4 genome ? AF: 0.00631 AC: 961AN: 152280Hom.: 9 Cov.: 32 AF XY: 0.00600 AC XY: 447AN XY: 74468
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Asia WGS
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3476
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Oct 24, 2018 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Uncertain
Dann
Uncertain
DEOGEN2
Benign
T;T
Eigen
Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Uncertain
D
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationAssessor
Uncertain
M;M
MutationTaster
Benign
D;D;D;D;D
PrimateAI
Uncertain
T
PROVEAN
Benign
N;N
REVEL
Benign
Sift
Benign
T;T
Sift4G
Benign
T;T
Vest4
MVP
MPC
ClinPred
T
GERP RS
Varity_R
gMVP
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at