chr16-30086236-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004608.4(TBX6):c.1300C>T(p.Pro434Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,592 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P434R) has been classified as Uncertain significance.
Frequency
Consequence
NM_004608.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBX6 | NM_004608.4 | c.1300C>T | p.Pro434Ser | missense_variant | 9/9 | ENST00000395224.7 | |
TBX6 | XM_011545926.4 | c.1300C>T | p.Pro434Ser | missense_variant | 9/9 | ||
TBX6 | XM_047434551.1 | c.1300C>T | p.Pro434Ser | missense_variant | 8/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBX6 | ENST00000395224.7 | c.1300C>T | p.Pro434Ser | missense_variant | 9/9 | 1 | NM_004608.4 | P1 | |
TBX6 | ENST00000279386.6 | c.1300C>T | p.Pro434Ser | missense_variant | 8/8 | 1 | P1 | ||
TBX6 | ENST00000567664.5 | c.*434C>T | 3_prime_UTR_variant, NMD_transcript_variant | 7/7 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459592Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726144
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Scoliosis Uncertain:1
Uncertain significance, criteria provided, single submitter | research | Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital | Aug 01, 2019 | This variant may contribute to congenital scoliosis development - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at