rs537788230
Variant names:
Your query was ambiguous. Multiple possible variants found:
- chr16-31464292-TAAAAAAAAAAAAAAA-T
- chr16-31464292-TAAAAAAAAAAAAAAA-TA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAA
- chr16-31464292-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001105247.2(ARMC5):c.1371-92_1371-78delAAAAAAAAAAAAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000788 in 380,614 control chromosomes in the GnomAD database, with no homozygous occurrence. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 27)
Exomes 𝑓: 0.0000079 ( 0 hom. )
Consequence
ARMC5
NM_001105247.2 intron
NM_001105247.2 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.28
Publications
0 publications found
Genes affected
ARMC5 (HGNC:25781): (armadillo repeat containing 5) This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
ARMC5 Gene-Disease associations (from GenCC):
- ACTH-independent macronodular adrenal hyperplasia 2Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics, Genomics England PanelApp
- Cushing syndrome due to macronodular adrenal hyperplasiaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001105247.2. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ARMC5 | MANE Select | c.1371-92_1371-78delAAAAAAAAAAAAAAA | intron | N/A | NP_001098717.1 | Q96C12-1 | |||
| ARMC5 | c.1656-92_1656-78delAAAAAAAAAAAAAAA | intron | N/A | NP_001275696.1 | J3KQ26 | ||||
| ARMC5 | c.1467-92_1467-78delAAAAAAAAAAAAAAA | intron | N/A | NP_001288749.1 | Q96C12 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ARMC5 | TSL:5 MANE Select | c.1371-101_1371-87delAAAAAAAAAAAAAAA | intron | N/A | ENSP00000268314.4 | Q96C12-1 | |||
| ARMC5 | TSL:1 | c.1371-101_1371-87delAAAAAAAAAAAAAAA | intron | N/A | ENSP00000399561.2 | Q96C12-4 | |||
| ARMC5 | TSL:2 | c.1656-101_1656-87delAAAAAAAAAAAAAAA | intron | N/A | ENSP00000386125.3 | J3KQ26 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
27
GnomAD4 exome AF: 0.00000788 AC: 3AN: 380614Hom.: 0 AF XY: 0.0000156 AC XY: 3AN XY: 192342 show subpopulations
GnomAD4 exome
AF:
AC:
3
AN:
380614
Hom.:
AF XY:
AC XY:
3
AN XY:
192342
show subpopulations
African (AFR)
AF:
AC:
0
AN:
9000
American (AMR)
AF:
AC:
0
AN:
8120
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
8520
East Asian (EAS)
AF:
AC:
0
AN:
18406
South Asian (SAS)
AF:
AC:
3
AN:
16648
European-Finnish (FIN)
AF:
AC:
0
AN:
25902
Middle Eastern (MID)
AF:
AC:
0
AN:
1464
European-Non Finnish (NFE)
AF:
AC:
0
AN:
273404
Other (OTH)
AF:
AC:
0
AN:
19150
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.725
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Exome Het
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
GnomAD4 genome
GnomAD4 genome
Cov.:
27
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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