chr12-52692776-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_175078.3(KRT77):c.1185G>T(p.Glu395Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000344 in 1,453,742 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRT77 | NM_175078.3 | c.1185G>T | p.Glu395Asp | missense_variant | 6/9 | ENST00000341809.8 | |
KRT77 | XM_011538288.3 | c.486G>T | p.Glu162Asp | missense_variant | 6/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT77 | ENST00000341809.8 | c.1185G>T | p.Glu395Asp | missense_variant | 6/9 | 1 | NM_175078.3 | P1 | |
ENST00000547533.1 | n.172C>A | non_coding_transcript_exon_variant | 1/3 | 3 | |||||
KRT77 | ENST00000553168.1 | c.*523G>T | 3_prime_UTR_variant, NMD_transcript_variant | 7/10 | 1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000344 AC: 5AN: 1453742Hom.: 1 Cov.: 32 AF XY: 0.00000553 AC XY: 4AN XY: 723210
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 08, 2021 | The c.1185G>T (p.E395D) alteration is located in exon 6 (coding exon 6) of the KRT77 gene. This alteration results from a G to T substitution at nucleotide position 1185, causing the glutamic acid (E) at amino acid position 395 to be replaced by an aspartic acid (D). 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