rs17850833
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_138431.3(MFSD3):c.1237T>C(p.Ter413ArgextTer?) variant causes a stop lost change involving the alteration of a non-conserved nucleotide. 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: not found (cov: 34)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
MFSD3
NM_138431.3 stop_lost
NM_138431.3 stop_lost
Scores
1
6
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0350
Genes affected
MFSD3 (HGNC:25157): (major facilitator superfamily domain containing 3) Predicted to enable solute:proton symporter activity. Predicted to be involved in proton transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_addAF=-0.132358).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MFSD3 | NM_138431.3 | c.1237T>C | p.Ter413ArgextTer? | stop_lost | 5/5 | ENST00000301327.5 | |
MFSD3 | XM_017013005.2 | c.1324T>C | p.Ter442ArgextTer? | stop_lost | 4/4 | ||
MFSD3 | XM_011516806.3 | c.*92T>C | 3_prime_UTR_variant | 5/5 | |||
MFSD3 | NR_130120.2 | n.1353T>C | non_coding_transcript_exon_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MFSD3 | ENST00000301327.5 | c.1237T>C | p.Ter413ArgextTer? | stop_lost | 5/5 | 1 | NM_138431.3 | P1 | |
MFSD3 | ENST00000528047.5 | n.1414T>C | non_coding_transcript_exon_variant | 3/3 | 3 | ||||
MFSD3 | ENST00000534427.1 | n.830T>C | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD3 genomes
?
Cov.:
34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1456654Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 724854
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
1456654
Hom.:
Cov.:
32
AF XY:
AC XY:
0
AN XY:
724854
Gnomad4 AFR exome
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Gnomad4 SAS exome
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Gnomad4 FIN exome
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GnomAD4 genome ? Cov.: 34
GnomAD4 genome
?
Cov.:
34
Bravo
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Eigen
Uncertain
Eigen_PC
Benign
FATHMM_MKL
Benign
N
MutationTaster
Benign
N
Vest4
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
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