chr12-52695816-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_175078.3(KRT77):c.871A>G(p.Thr291Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000204 in 1,613,824 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_175078.3 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 |
---|---|---|---|---|---|---|---|
KRT77 | NM_175078.3 | c.871A>G | p.Thr291Ala | missense_variant | 4/9 | ENST00000341809.8 | |
KRT77 | XM_011538288.3 | c.172A>G | p.Thr58Ala | missense_variant | 4/9 | ||
KRT77 | XM_011538289.3 | c.871A>G | p.Thr291Ala | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT77 | ENST00000341809.8 | c.871A>G | p.Thr291Ala | missense_variant | 4/9 | 1 | NM_175078.3 | P1 | |
KRT77 | ENST00000553168.1 | c.*209A>G | 3_prime_UTR_variant, NMD_transcript_variant | 5/10 | 1 | ||||
ENST00000547533.1 | n.352-563T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152142Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251470Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135910
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461682Hom.: 0 Cov.: 30 AF XY: 0.0000234 AC XY: 17AN XY: 727138
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152142Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 20, 2023 | The c.871A>G (p.T291A) alteration is located in exon 4 (coding exon 4) of the KRT77 gene. This alteration results from a A to G substitution at nucleotide position 871, causing the threonine (T) at amino acid position 291 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at