rs398124656
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP2PP3
The NM_003184.4(TAF2):c.557C>T(p.Thr186Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,070 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003184.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF2 | NM_003184.4 | c.557C>T | p.Thr186Ile | missense_variant | 5/26 | ENST00000378164.7 | NP_003175.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF2 | ENST00000378164.7 | c.557C>T | p.Thr186Ile | missense_variant | 5/26 | 1 | NM_003184.4 | ENSP00000367406.2 | ||
TAF2 | ENST00000686879.1 | c.557C>T | p.Thr186Ile | missense_variant | 5/27 | ENSP00000509206.1 | ||||
TAF2 | ENST00000685235.1 | c.557C>T | p.Thr186Ile | missense_variant | 5/26 | ENSP00000510174.1 | ||||
TAF2 | ENST00000688645.1 | c.557C>T | p.Thr186Ile | missense_variant | 5/25 | ENSP00000509978.1 | ||||
TAF2 | ENST00000523904.2 | c.557C>T | p.Thr186Ile | missense_variant | 5/25 | 3 | ENSP00000430832.2 | |||
TAF2 | ENST00000690144.1 | c.557C>T | p.Thr186Ile | missense_variant | 5/26 | ENSP00000510548.1 | ||||
TAF2 | ENST00000521007.2 | c.557C>T | p.Thr186Ile | missense_variant | 6/7 | 3 | ENSP00000428484.2 | |||
TAF2 | ENST00000685202.1 | n.557C>T | non_coding_transcript_exon_variant | 5/27 | ENSP00000509214.1 | |||||
TAF2 | ENST00000685503.1 | n.557C>T | non_coding_transcript_exon_variant | 5/26 | ENSP00000509198.1 | |||||
TAF2 | ENST00000685663.1 | n.*429C>T | non_coding_transcript_exon_variant | 7/28 | ENSP00000508988.1 | |||||
TAF2 | ENST00000685824.1 | n.*372C>T | non_coding_transcript_exon_variant | 4/24 | ENSP00000510262.1 | |||||
TAF2 | ENST00000685876.1 | n.*275C>T | non_coding_transcript_exon_variant | 6/27 | ENSP00000510493.1 | |||||
TAF2 | ENST00000685993.1 | n.*372C>T | non_coding_transcript_exon_variant | 4/25 | ENSP00000510102.1 | |||||
TAF2 | ENST00000686098.1 | n.557C>T | non_coding_transcript_exon_variant | 5/25 | ENSP00000509102.1 | |||||
TAF2 | ENST00000689164.1 | n.557C>T | non_coding_transcript_exon_variant | 5/24 | ENSP00000508729.1 | |||||
TAF2 | ENST00000689919.1 | n.*275C>T | non_coding_transcript_exon_variant | 6/26 | ENSP00000510768.1 | |||||
TAF2 | ENST00000690808.1 | n.557C>T | non_coding_transcript_exon_variant | 5/26 | ENSP00000509791.1 | |||||
TAF2 | ENST00000690922.1 | n.557C>T | non_coding_transcript_exon_variant | 5/26 | ENSP00000509498.1 | |||||
TAF2 | ENST00000691880.1 | n.*213C>T | non_coding_transcript_exon_variant | 4/25 | ENSP00000508515.1 | |||||
TAF2 | ENST00000692518.1 | n.*372C>T | non_coding_transcript_exon_variant | 4/25 | ENSP00000508959.1 | |||||
TAF2 | ENST00000692707.1 | n.*275C>T | non_coding_transcript_exon_variant | 6/28 | ENSP00000509024.1 | |||||
TAF2 | ENST00000685663.1 | n.*429C>T | 3_prime_UTR_variant | 7/28 | ENSP00000508988.1 | |||||
TAF2 | ENST00000685824.1 | n.*372C>T | 3_prime_UTR_variant | 4/24 | ENSP00000510262.1 | |||||
TAF2 | ENST00000685876.1 | n.*275C>T | 3_prime_UTR_variant | 6/27 | ENSP00000510493.1 | |||||
TAF2 | ENST00000685993.1 | n.*372C>T | 3_prime_UTR_variant | 4/25 | ENSP00000510102.1 | |||||
TAF2 | ENST00000689919.1 | n.*275C>T | 3_prime_UTR_variant | 6/26 | ENSP00000510768.1 | |||||
TAF2 | ENST00000691880.1 | n.*213C>T | 3_prime_UTR_variant | 4/25 | ENSP00000508515.1 | |||||
TAF2 | ENST00000692518.1 | n.*372C>T | 3_prime_UTR_variant | 4/25 | ENSP00000508959.1 | |||||
TAF2 | ENST00000692707.1 | n.*275C>T | 3_prime_UTR_variant | 6/28 | ENSP00000509024.1 | |||||
TAF2 | ENST00000685684.1 | n.520+37C>T | intron_variant | ENSP00000509441.1 | ||||||
TAF2 | ENST00000688037.1 | n.139-1856C>T | intron_variant | ENSP00000510169.1 | ||||||
TAF2 | ENST00000690031.1 | n.*238+37C>T | intron_variant | ENSP00000508549.1 | ||||||
TAF2 | ENST00000691847.1 | n.538+19C>T | intron_variant | ENSP00000509663.1 | ||||||
TAF2 | ENST00000692916.1 | n.419-1856C>T | intron_variant | ENSP00000509603.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152070Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152070Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74278
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at