NM_005640.3:c.73A>G

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate

The NM_005640.3(TAF4B):ā€‹c.73A>Gā€‹(p.Met25Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000307 in 1,303,034 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 32)
Exomes š‘“: 0.0000031 ( 0 hom. )

Consequence

TAF4B
NM_005640.3 missense

Scores

1
18

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.368
Variant links:
Genes affected
TAF4B (HGNC:11538): (TATA-box binding protein associated factor 4b) TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.0715774).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
TAF4BNM_005640.3 linkc.73A>G p.Met25Val missense_variant Exon 1 of 15 ENST00000269142.10 NP_005631.1 Q92750-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
TAF4BENST00000269142.10 linkc.73A>G p.Met25Val missense_variant Exon 1 of 15 1 NM_005640.3 ENSP00000269142.6 Q92750-1
TAF4BENST00000578121.5 linkc.73A>G p.Met25Val missense_variant Exon 1 of 15 2 ENSP00000462980.1 J3KTH2
TAF4BENST00000418698.3 linkn.73A>G non_coding_transcript_exon_variant Exon 1 of 16 5 ENSP00000389365.3 Q92750-2

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
AF:
0.00000307
AC:
4
AN:
1303034
Hom.:
0
Cov.:
30
AF XY:
0.00000312
AC XY:
2
AN XY:
640664
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00000381
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
32
ExAC
AF:
0.00000911
AC:
1

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.072
BayesDel_addAF
Benign
-0.082
T
BayesDel_noAF
Benign
-0.36
CADD
Benign
8.5
DANN
Benign
0.89
DEOGEN2
Benign
0.060
T;T
Eigen
Benign
-0.83
Eigen_PC
Benign
-0.71
FATHMM_MKL
Benign
0.051
N
LIST_S2
Benign
0.63
T;T
M_CAP
Benign
0.013
T
MetaRNN
Benign
0.072
T;T
MetaSVM
Benign
-0.98
T
MutationAssessor
Benign
1.9
L;.
PrimateAI
Uncertain
0.78
T
PROVEAN
Benign
-0.59
N;.
REVEL
Benign
0.040
Sift
Benign
0.11
T;.
Sift4G
Benign
0.35
T;T
Polyphen
0.035
B;.
Vest4
0.14
MutPred
0.32
Gain of sheet (P = 0.0049);Gain of sheet (P = 0.0049);
MVP
0.17
MPC
0.79
ClinPred
0.10
T
GERP RS
1.4
Varity_R
0.25
gMVP
0.40

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs767259535; hg19: chr18-23806970; API