rs2074888
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003200.5(TCF3):c.1475C>T(p.Ala492Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0241 in 1,574,730 control chromosomes in the GnomAD database, including 4,192 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. A492A) has been classified as Likely benign.
Frequency
Consequence
NM_003200.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TCF3 | NM_003200.5 | c.1475C>T | p.Ala492Val | missense_variant | 17/19 | ENST00000262965.12 | |
TCF3 | NM_001136139.4 | c.1475C>T | p.Ala492Val | missense_variant | 17/20 | ENST00000588136.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TCF3 | ENST00000262965.12 | c.1475C>T | p.Ala492Val | missense_variant | 17/19 | 1 | NM_003200.5 | A1 | |
TCF3 | ENST00000588136.7 | c.1475C>T | p.Ala492Val | missense_variant | 17/20 | 2 | NM_001136139.4 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0346 AC: 5256AN: 152030Hom.: 503 Cov.: 32
GnomAD3 exomes AF: 0.0594 AC: 13197AN: 222056Hom.: 1736 AF XY: 0.0571 AC XY: 6718AN XY: 117754
GnomAD4 exome AF: 0.0230 AC: 32660AN: 1422582Hom.: 3691 Cov.: 37 AF XY: 0.0239 AC XY: 16746AN XY: 701578
GnomAD4 genome ? AF: 0.0345 AC: 5250AN: 152148Hom.: 501 Cov.: 32 AF XY: 0.0389 AC XY: 2890AN XY: 74378
ClinVar
Submissions by phenotype
Myeloproliferative neoplasm, unclassifiable Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology | Aug 25, 2022 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at