rs61746992
Positions:
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_015688.2(FAM184B):āc.823G>Cā(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: š 0.0032 ( 6 hom., cov: 29)
Exomes š: 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
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.010471642).
BS2
?
High Homozygotes in GnomAd4 at 6 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM184B | NM_015688.2 | c.823G>C | p.Asp275His | missense_variant | 2/18 | ENST00000265018.4 | |
FAM184B | XM_047450066.1 | c.823G>C | p.Asp275His | missense_variant | 2/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM184B | ENST00000265018.4 | c.823G>C | p.Asp275His | missense_variant | 2/18 | 1 | NM_015688.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00323 AC: 491AN: 151916Hom.: 6 Cov.: 29
GnomAD3 genomes
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GnomAD3 exomes AF: 0.00293 AC: 455AN: 155496Hom.: 5 AF XY: 0.00294 AC XY: 242AN XY: 82432
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GnomAD4 exome AF: 0.00548 AC: 7668AN: 1398352Hom.: 31 Cov.: 30 AF XY: 0.00534 AC XY: 3685AN XY: 689660
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GnomAD4 genome ? AF: 0.00322 AC: 490AN: 152036Hom.: 6 Cov.: 29 AF XY: 0.00293 AC XY: 218AN XY: 74300
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ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
BayesDel_addAF
Benign
T
BayesDel_noAF
Uncertain
CADD
Pathogenic
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
MutationTaster
Benign
D
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
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