NM_001025091.2:c.62C>G

Variant summary

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

The NM_001025091.2(ABCF1):​c.62C>G​(p.Thr21Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T21M) has been classified as Uncertain significance.

Frequency

Genomes: not found (cov: 32)
Exomes š‘“: 6.9e-7 ( 0 hom. )
Failed GnomAD Quality Control

Consequence

ABCF1
NM_001025091.2 missense

Scores

4
14

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 2.16
Variant links:
Genes affected
ABCF1 (HGNC:70): (ATP binding cassette subfamily F member 1) The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]

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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=0.15206987).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
ABCF1NM_001025091.2 linkc.62C>G p.Thr21Arg missense_variant Exon 1 of 25 ENST00000326195.13 NP_001020262.1 Q8NE71-1A0A1U9X609
ABCF1NM_001090.3 linkc.62C>G p.Thr21Arg missense_variant Exon 1 of 24 NP_001081.1 Q8NE71-2Q2L6I2

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ABCF1ENST00000326195.13 linkc.62C>G p.Thr21Arg missense_variant Exon 1 of 25 1 NM_001025091.2 ENSP00000313603.8 Q8NE71-1
ABCF1ENST00000376545.7 linkc.62C>G p.Thr21Arg missense_variant Exon 1 of 24 1 ENSP00000365728.3 Q8NE71-2
ABCF1ENST00000441867.6 linkc.62C>G p.Thr21Arg missense_variant Exon 1 of 25 5 ENSP00000405512.2 Q5STZ8
ABCF1ENST00000468958.1 linkc.-183C>G 5_prime_UTR_variant Exon 1 of 7 3 ENSP00000440893.1 F5GYK6

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD3 exomes
AF:
0.00000419
AC:
1
AN:
238914
Hom.:
0
AF XY:
0.00
AC XY:
0
AN XY:
131024
show subpopulations
Gnomad AFR exome
AF:
0.00
Gnomad AMR exome
AF:
0.00
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.0000334
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.00
Gnomad OTH exome
AF:
0.00
GnomAD4 exome
Data not reliable, filtered out with message: AS_VQSR
AF:
6.86e-7
AC:
1
AN:
1457846
Hom.:
0
Cov.:
32
AF XY:
0.00
AC XY:
0
AN XY:
725024
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:
0.0000116
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
32
ExAC
AF:
0.00000852
AC:
1

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.12
BayesDel_addAF
Benign
-0.026
T
BayesDel_noAF
Benign
-0.17
CADD
Uncertain
23
DANN
Uncertain
0.98
DEOGEN2
Benign
0.031
T;.;T
Eigen
Benign
-0.57
Eigen_PC
Benign
-0.48
FATHMM_MKL
Benign
0.56
D
M_CAP
Uncertain
0.20
D
MetaRNN
Benign
0.15
T;T;T
MetaSVM
Benign
-0.54
T
MutationAssessor
Benign
0.90
L;L;.
PrimateAI
Uncertain
0.51
T
PROVEAN
Benign
-0.17
N;N;N
REVEL
Benign
0.13
Sift
Uncertain
0.0040
D;D;D
Sift4G
Benign
0.50
T;T;T
Polyphen
0.18
B;.;.
Vest4
0.31
MutPred
0.15
Loss of phosphorylation at T21 (P = 0.0123);Loss of phosphorylation at T21 (P = 0.0123);Loss of phosphorylation at T21 (P = 0.0123);
MVP
0.87
MPC
0.37
ClinPred
0.84
D
GERP RS
5.1
Varity_R
0.12
gMVP
0.082

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.030
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: rs376093203; hg19: chr6-30539326; API