rs61746992
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_015688.2(FAM184B):c.823G>C(p.Asp275His) variant causes a missense change. The variant allele was found at a frequency of 0.00526 in 1,550,388 control chromosomes in the GnomAD database, including 37 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0032 ( 6 hom., cov: 29)
Exomes 𝑓: 0.0055 ( 31 hom. )
Consequence
FAM184B
NM_015688.2 missense
NM_015688.2 missense
Scores
3
10
6
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 6.78
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -8 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.010471642).
BS2
High Homozygotes in GnomAd4 at 6 AR gene
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00323 AC: 491AN: 151916Hom.: 6 Cov.: 29 show subpopulations
GnomAD3 genomes
AF:
AC:
491
AN:
151916
Hom.:
Cov.:
29
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD2 exomes AF: 0.00293 AC: 455AN: 155496 AF XY: 0.00294 show subpopulations
GnomAD2 exomes
AF:
AC:
455
AN:
155496
AF XY:
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
AF:
Gnomad FIN exome
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Gnomad NFE exome
AF:
Gnomad OTH exome
AF:
GnomAD4 exome AF: 0.00548 AC: 7668AN: 1398352Hom.: 31 Cov.: 30 AF XY: 0.00534 AC XY: 3685AN XY: 689660 show subpopulations
GnomAD4 exome
AF:
AC:
7668
AN:
1398352
Hom.:
Cov.:
30
AF XY:
AC XY:
3685
AN XY:
689660
Gnomad4 AFR exome
AF:
AC:
20
AN:
31588
Gnomad4 AMR exome
AF:
AC:
114
AN:
35666
Gnomad4 ASJ exome
AF:
AC:
2
AN:
25088
Gnomad4 EAS exome
AF:
AC:
1
AN:
35736
Gnomad4 SAS exome
AF:
AC:
164
AN:
79116
Gnomad4 FIN exome
AF:
AC:
28
AN:
48874
Gnomad4 NFE exome
AF:
AC:
7063
AN:
1078624
Gnomad4 Remaining exome
AF:
AC:
269
AN:
57972
Heterozygous variant carriers
0
470
940
1410
1880
2350
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Exome Het
Exome Hom
Variant carriers
0
282
564
846
1128
1410
<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 AF: 0.00322 AC: 490AN: 152036Hom.: 6 Cov.: 29 AF XY: 0.00293 AC XY: 218AN XY: 74300 show subpopulations
GnomAD4 genome
AF:
AC:
490
AN:
152036
Hom.:
Cov.:
29
AF XY:
AC XY:
218
AN XY:
74300
Gnomad4 AFR
AF:
AC:
0.000892125
AN:
0.000892125
Gnomad4 AMR
AF:
AC:
0.00301284
AN:
0.00301284
Gnomad4 ASJ
AF:
AC:
0
AN:
0
Gnomad4 EAS
AF:
AC:
0
AN:
0
Gnomad4 SAS
AF:
AC:
0.00145108
AN:
0.00145108
Gnomad4 FIN
AF:
AC:
0.000755002
AN:
0.000755002
Gnomad4 NFE
AF:
AC:
0.00572328
AN:
0.00572328
Gnomad4 OTH
AF:
AC:
0.00142586
AN:
0.00142586
Heterozygous variant carriers
0
27
54
81
108
135
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
10
20
30
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50
<30
30-35
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50-55
55-60
60-65
65-70
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75-80
>80
Age
Alfa
AF:
Hom.:
Bravo
AF:
TwinsUK
AF:
AC:
41
ALSPAC
AF:
AC:
24
ESP6500AA
AF:
AC:
0
ESP6500EA
AF:
AC:
13
ExAC
AF:
AC:
44
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
BayesDel_addAF
Benign
T
BayesDel_noAF
Uncertain
DANN
Uncertain
DEOGEN2
Benign
T
Eigen
Pathogenic
Eigen_PC
Pathogenic
FATHMM_MKL
Uncertain
D
LIST_S2
Benign
T
M_CAP
Benign
D
MetaRNN
Benign
T
MetaSVM
Uncertain
D
MutationAssessor
Uncertain
M
PrimateAI
Uncertain
T
PROVEAN
Uncertain
D
REVEL
Uncertain
Sift
Uncertain
D
Sift4G
Uncertain
D
Polyphen
D
Vest4
MVP
ClinPred
T
GERP RS
Varity_R
gMVP
Mutation Taster
=96/4
polymorphism
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at